c22c logo

EMANUELSYNDROME.ORG

Information on the 11/22 translocation and
Emanuel Syndrome
Sponsored by Chromosome 22 Central


Home | Contact | Donate | Links


                       email facebook


 CONTACTABOUT ES11/22 TRANSCONNECTSHOP C22CEVENTSABOUT C22CJOIN C22C

l


Our group can mail you a free parent guide, with supportive help from other parents.

Please email us for your copy!








17

































































Published journal articles that have been written on t(11;22) and Emanuel Syndrome.

Abeliovich, D., & Carmi, R. (1990). The translocation 11q;22q: a novel unbalanced karyotype. American Journal of Medical Genetics, 37(2), 288. https://doi.org/10.1002/ajmg.1320370227

Adams, L. E., Chapman, A., Cormack, C. L., Campbell, K., Ebanks, A. H., Annibale, D. J., & Hollinger, L. E. (2021). Emanuel syndrome and congenital diaphragmatic hernia: A systematic review. Journal of Pediatric Surgery, S0022-3468(21)00777-6. Advance online publication. https://doi.org/10.1016/j.jpedsurg.2021.11.005 

Afroze, B., Ngu, L. H., Roziana, A., Aminah, M., & Noor Shahizan, A. (2008). Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation. Singapore Medical Journal, 49(12), e372–e374. http://smj.sma.org.sg/4912/4912cr11.pdf 

Alfi OS, Sanger RG, Donnell GM. 1975. Trisomy 22: A clinically identifiable syndrome. Birth Defects Orig Artic Ser. 11:241-245.

Allanson J. E. (1993). Unusual segregation for 11q;22q parental translocation. Prenatal Diagnosis, 13(9), 889–891. https://doi.org/10.1002/pd.1970130915 

Allotey, J., Lacaille, F., Lees, M. M., Strautnieks, S., Thompson, R. J., & Davenport, M. (2008). Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy. Journal of Pediatric Surgery, 43(9), 1736–1740. https://doi.org/10.1016/j.jpedsurg.2008.05.012 

Annerén, G., & Gustavson, K. H. (1981). Trisomy 22 syndrome in a 26-year-old female--A follow-up examination. Hereditas, 94(1), 67–71. https://doi.org/10.1111/j.1601-5223.1981.tb01733.x 

Anton, E., Vidal, F., Egozcue, J., & Blanco, J. (2004). Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothers. Reproductive Biomedicine Online, 9(6), 637–644. https://doi.org/10.1016/s1472-6483(10)61774-9 

Antonenko V.G., Svetlychnaya D.V., Djurcova N.V., Haritonova N.A., Shilova N.V. A case of Emanuel syndrome on a newborn girl with congenital heart defect. Medical Genetics. 2019;18(9):34-39. (In Russ.) https://doi.org/10.25557/2073-7998.2019.09.34-39 

Armstrong, S. J., Goldman, A. S., Speed, R. M., & Hultén, M. A. (2000). Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation. American Journal of Human Genetics, 67(3), 601–609. https://doi.org/10.1086/303052 

Ashley, T., Gaeth, A. P., Inagaki, H., Seftel, A., Cohen, M. M., Anderson, L. K., Kurahashi, H., & Emanuel, B. S. (2006). Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). American Journal of Human Genetics, 79(3), 524–538. https://doi.org/10.1086/507652 

Aurias, A., & Laurent, C. (1975). Trisomie 11q. Individualisation d'un nouveau syndrome [Trisomy 11q. Individualization of a new syndrome]. Annales de Genetique, 18(3), 189–191.

Aurias, A., Turc, C., Michiels, Y., Sinet, P. M., Graveleau, D., & Lejeune, J. (1975). Deux cas de trisomie 11q(q231 leads to qter) par translocation t(11;11) (q231;q111) dans deux familles différentes [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families]. Annales de Genetique, 18(3), 185–188. 

Ayraud, N., Galiana, A., Llyod, M., & Deswarte, M. (1976). Trisome 11q (q23.1 leads to qter) par translocation maternelle t (11.1). Une nouvelle observation [Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case]. Annales de Genetique, 19(1), 65–68.

Babu, K. A., Verma, R. S., Nigam, R. B., & Alsheikh, S. N. (1986). Precise location of breakpoints in a frequent reciprocal translocation between chromosomes 11 and 22. The Journal of Heredity, 77(1), 63–64. https://doi.org/10.1093/oxfordjournals.jhered.a110175 

Balci, S., Engiz, O., Yilmaz, Z., & Baltaci, V. (2006). Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). Genetic Counseling (Geneva, Switzerland), 17(3), 281–289. 

Bartsch, O., Loitzsch, A., Kozlowski, P., Mazauric, M. L., & Hickmann, G. (2005). Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. European Journal of Human Genetics: EJHG, 13(11), 1192–1204. https://doi.org/10.1038/sj.ejhg.5201473 

Beedgen, B., Nützenadel, W., Querfeld, U., & Weiss-Wichert, P. (1986). "Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease. European Journal of Pediatrics, 145(3), 229–232. https://doi.org/10.1007/BF00446075 

Benítez J, Ayuso C, Garcia Aparicio J, Saez E, Perez Sotelo A, Bello yMJ. 1981. Trisomía parcial 11q;22;. Aportación de dos nuevos casos en dos familias portadoras de translocatión. An Esp Pediatr 15:293-300.

Biederman, B. M., Lin, C. C., Lowry, R. B., & Somerville, R. (1980). Tertiary trisomy (22q11q),47,+der(22),t(11;22). Human Genetics, 53(2), 173–177. https://doi.org/10.1007/BF00273491 

Bofinger, M. K., & Soukup, S. W. (1977). Cat eye syndrome. Partial trisomy 22 due to translocation in the mother. American Journal of Diseases of Children (1960), 131(8), 893–897. https://doi.org/10.1001/archpedi.1977.02120210071015 

Boué, A., & Gallano, P. (1984). A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenatal Diagnosis, 4 Spec No, 45–67. https://doi.org/10.1002/pd.1970040705 

Blancato, J. K., Eglinton, G., George, J., Benkendorf, J., Pinckert, T., & Meck, J. (1995). Prenatal diagnosis of partial trisomy through in situ hybridization on amniocytes with whole chromosome and centromere-specific DNA probes. A case report. The Journal of Reproductive Medicine, 40(7), 537–539. 

Borooova, I., Bernasovsky, I., Bernasovska, J., & Puschauerova, M. (2017) Constitutional Translocation t(11,22) in Slovak Romanies from the Prešov Region (Slovakia). Pages 1-4 | Published online: 17 Oct 2017 https://doi.org/10.1080/09720073.2008.11891021

Carter, M. T., Barrowman, N. J., St Pierre, S. A., Emanuel, B. S., & Boycott, K. M. (2010). Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. American Journal of Medical Genetics. Part A, 152A(1), 212–214. https://doi.org/10.1002/ajmg.a.33166 

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957 

Chandley A. C. (1992). Involvement of 3:1 disjunction in the common reciprocal translocation t(11;22) (q23.3;q11.2). Human Genetics, 90(1-2), 191–192. https://doi.org/10.1007/BF00210779

Chauveau, P., Gruchy, D., Herouin, C., & Levesque, L. (1980). A propos d'une nouvelle observation de trisomie 11q secondaire a une translocation maternelle t(11;22)(q23.1;q11.1) [A new observation of trisomy 11q due to t(11,22)(q23.1; q11.1) mat (author's transl)]. Annales de Genetique, 23(4), 213–215. 

Chen, C. P., Liu, F. F., Jan, S. W., Yang, Y. C., & Lan, C. C. (1996). Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Prenatal Diagnosis, 16(12), 1137–1140. https://doi.org/10.1002/(SICI)1097-0223(199612)16:12<1137::AID-PD979>3.0.CO;2-K 

Chen, C. P., Wang, T. H., Chang, T. Y., Lee, C. C., Chen, W. L., Chen, L. F., & Wang, W. (2006). Prenatal diagnosis of the supernumerary der(22)t(11;22) syndrome associated with abnormal sonographic findings. Genetic Counseling (Geneva, Switzerland), 17(4), 469–472. 

Chetcuti-Ganado, C., & Grech, V. (2003). Complex congenital cardiac disease in a patient with partial trisomy for the long arms of chromosomes 11 and 22. Cardiology in the Young, 13(5), 481–483. 

Choudhary, M. G., Babaji, P., Sharma, N., Dhamankar, D., Naregal, G., & Reddy, V. S. (2013). Derivative 11;22 (Emanuel) syndrome: a case report and a review. Case Reports in Pediatrics, 2013, 237935. https://doi.org/10.1155/2013/237935 

Clark R. D. (1991). A cytogenetic abnormality in tuberous sclerosis. Report of an affected infant with 47,XX, + der22,t(11;22)(q23.3;q11.2)mat. Annals of the New York Academy of Sciences, 615, 243–251. https://doi.org/10.1111/j.1749-6632.1991.tb37765.x 

Correll-Tash, S., Conlin, L., Mininger, B. A., Lilley, B., Mennuti, M. T., & Emanuel, B. S. (2018). The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event. Cytogenetic and Genome Research, 156(4), 185–190. https://doi.org/10.1159/000494648 

Dawson, A. J., Mears, A. J., Chudley, A. E., Bech-Hansen, T., & McDermid, H. (1996). Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. Journal of Medical Genetics, 33(11), 952–956. https://doi.org/10.1136/jmg.33.11.952 

Dean, J. C., Couzin, D. A., Gray, E. S., Lloyd, D. J., & Stephen, G. S. (1991). Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field. Clinical Genetics, 40(5), 349–352. https://doi.org/10.1111/j.1399-0004.1991.tb03108.x 

de Beaufort, C., Schneider, F., Chafai, R., Colette, J. M., Delneste, D., & Pierquin, G. (2000). Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. Genetic Counseling (Geneva, Switzerland), 11(2), 181–182.

Deepika, M.L., Sunitha, T., Srinadh, B., Prasoona, K.R., Sujatha, M., Ramaiah, A., Jyothy, A., & Nallari, P. (2016). Prenatal assessment of Three Rare Syndromes from Telangana region by 3D/4D Sonography. Journal of Genetic Syndromes & Gene Therapy, 7, 1-5.

de Lonlay-Debeney, P., de Blois, M. C., Bonnet, D., Amiel, J., Abadie, V., Picq, M., Lyonnet, S., Sidi, D., Munnich, A., Vekemans, M., & Cormier-Daire, V. (1998). Ebstein anomaly associated with rearrangements of chromosomal region 11q. American Journal of Medical Genetics, 80(2), 157–159. https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u 

Doyen, J., Carpentier, X., Haudebourg, J., Hoch, B., Karmous-Benailly, H., Ambrosetti, D., Fabas, T., Amiel, J., Lambert, J. C., & Pedeutour, F. (2012). Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer. Cancer Genetics, 205(11), 603–607. https://doi.org/10.1016/j.cancergen.2012.09.006 

Drum, E. T., Herlich, A., Levine, B., & Mayhew, J. F. (2005). Anesthesia in a patient with chromosome 11;22 translocation: a case report and literature review. Paediatric Anaesthesia, 15(11), 985–987. https://doi.org/10.1111/j.1460-9592.2005.01561.x 

Dudarewicz, L., Jakubowski, J., Hawula, W., Kozlowska, M., Laskowska, U. Ramsauer, B., Herbst, H & Rickert, C. (2014). Emanuel syndrome. https://thefetus.net/content/emanuel-syndrome/ 

Dufke, A., Leipoldt, M., & Enders, H. (2003). Chromosomal mosaicism in familial reciprocal translocation carriers: necessity of karyotyping different tissues. American Journal of Medical Genetics. Part A, 121A(3), 292. https://doi.org/10.1002/ajmg.a.20288 

Emanuel, B. S., Zackai, E. H., Aronson, M. M., Mellman, W. J., & Moorhead, P. S. (1976). Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. Journal of Medical Genetics, 13(6), 501–506. https://doi.org/10.1136/jmg.13.6.501 

Emanuel B. S. (2008). Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Developmental Disabilities Research Reviews, 14(1), 11–18. https://doi.org/10.1002/ddrr.3 

Edelmann, L., Spiteri, E., Koren, K., Pulijaal, V., Bialer, M. G., Shanske, A., Goldberg, R., & Morrow, B. E. (2001). AT-rich palindromes mediate the constitutional t(11;22) translocation. American Journal of Human Genetics, 68(1), 1–13. https://doi.org/10.1086/316952 

Edelmann, L., Spiteri, E., McCain, N., Goldberg, R., Pandita, R. K., Duong, S., Fox, J., Blumenthal, D., Lalani, S. R., Shaffer, L. G., & Morrow, B. E. (1999). A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. American Journal of Human Genetics, 65(6), 1608–1616. https://doi.org/10.1086/302689 

Edoardo, Taddei, Elena, Sartori, Luigi, Raio Bulgheroni and Andrea, Papadia. "Early detection of Emanuel syndrome: a case report" Case Reports in Perinatal Medicine, vol. 10, no. 1, 2021, pp. 20200049. https://doi.org/10.1515/crpm-2020-0049

Estop, A. M., Cieply, K. M., Munne, S., & Feingold, E. (1999). Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Human Genetics, 104(5), 412–417. https://doi.org/10.1007/s004390050977 

Fokstuen, S., Binkert, F., Munoz, A., Erb, N., Dürig, P., Altermatt, H. J., Blouin, J. L., & Kotzot, D. (2013). Contamination of amniotic fluid with maternal balanced t(11;22) translocation cells. American Journal of Medical Genetics. Part A, 161A(5), 1101–1104. https://doi.org/10.1002/ajmg.a.35774 

Fraccaro, M., Lindsten, J., Ford, C. E., & Iselius, L. (1980). The 11q;22q translocation: a European collaborative analysis of 43 cases. Human Genetics, 56(1), 21–51. https://doi.org/10.1007/BF00281567 

Feldman, G. M., & Sparkes, R. S. (1978). The problem of partial trisomy 22 reconsidered. Human Genetics, 45(1), 97–101. https://doi.org/10.1007/BF00277580 

Fu, W., Borgaonkar, D. S., Ladewig, P. P., Weaver, J., & Pomerance, H. H. (1976). Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11). Clinical Genetics, 10(6), 329–336. https://doi.org/10.1111/j.1399-0004.1976.tb00057.x 

Fung, J., Munné, S., Garcia, J., Kim, U. J., & Weier, H. U. (1999). Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis. Reproduction, Fertility, and Development, 11(1), 17–23. https://doi.org/10.1071/rd98110 

Fuster, C., Miguez, L., Miró, R., Rigola, M. A., Perez, A., & Egozcue, J. (1997). Familial complex chromosome rearrangement ascertained by in situ hybridisation. Journal of Medical Genetics, 34(2), 164–166. https://doi.org/10.1136/jmg.34.2.164 

Garcia-Vielma, C., de la Rosa-Alvarado, R. M., Nieto-Martinez, K., Cortes-Gutierrez, E. I., & de la Fuente-Cortez, B. (2010). Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. Journal of the Association of Genetic Technologists, 36(4), 189–193.

Giraud, F., Mattei, J. F., Mattei, M. G., & Bernard, R. (1975). Trisomie partielle 11q et translocation familiale 11--22 [Partial trisomy 11q and familial translocation 11--22 (author's transl)]. Humangenetik, 28(4), 343–347. 

Glaser, T. S., Rauen, K. A., Jeng, L. J., & de Alba Campomanes, A. G. (2013). Lipodermoid in a patient with Emanuel syndrome. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 17(2), 211–213. https://doi.org/10.1016/j.jaapos.2012.11.011 

Goodman, R. M., Katznelson, M. B., Spero, M., Shaki, R., Padeh, B., & Sadan, N. (1971). The question of trisomy 22 syndrome. The Journal of Pediatrics, 79(1), 174–175. https://doi.org/10.1016/s0022-3476(71)80096-3 

Gordillo González G, Rojas A, Zarante I, Gómez A, Moreno OM, Osorio G. Emanuel syndrome or supernumerary derived chromosome 22 syndrome. Iatreia [Internet]. 2010 Nov 28 [cited 2022 Jan 26];23(4-S):S-78. Available at: https://revistas.udea.edu.co/index.php/iatreia/article/view/8227 

Gotter, A. L., Shaikh, T. H., Budarf, M. L., Rhodes, C. H., & Emanuel, B. S. (2004). A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Human Molecular Genetics, 13(1), 103–115. https://doi.org/10.1093/hmg/ddh004 

Gremeau, A. S., Coste, K., Blanc, P., Goumy, C., Francannet, C., Dechelotte, P. J., Vago, P., Laurichesse-Delmas, H., Labbe, A., Lemery, D., Sapin, V., & Gallot, D. (2009). Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. Prenatal Diagnosis, 29(8), 816–818. https://doi.org/10.1002/pd.2289 

GUSTAVSON, K. H., HAGBERG, B., FINLEY, S. C., & FINLEY, W. H. (1962). An apparently identical extra autosome in two severely retarded sisters with multiple malformations. Cytogenetics, 1, 32–41. https://doi.org/10.1159/000129711 

Guven MA, Ceylaner G, Ceylaner S, Coskun A. 2006. Prenatal diagnosis of a case with Emanuel Syndrome (supernumerary der(22) syndrome. Poster Abstract. Ultrasound Ob Gyn 28:522. https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.3429 

Hall B. 1963. Mongolism and other abnormalities in a family with trisomy 21-22 tendency. Acta Pediatrica. Supplementum, 77–91. https://doi.org/10.1111/j.1651-2227.1963.tb05520.x 

Harewood, L., Schütz, F., Boyle, S., Perry, P., Delorenzi, M., Bickmore, W. A., & Reymond, A. (2010). The effect of translocation-induced nuclear reorganization on gene expression. Genome Research, 20(5), 554–564. https://doi.org/10.1101/gr.103622.109 

Hao, X., Wu, J., Fu, W., Zhang, R., Zhong, S., Deng, Y., Zhu, Y., Ye, Y., & Fang, Q. (2022). Prenatal Diagnosis of Fetuses with Emanuel Syndrome: Results of Ultrasound Examination and Invasive Genetic Testing. Prenatal Diagnosis, 10.1002/pd.6098. Advance online publication. https://doi.org/10.1002/pd.6098 

Hill, A. S., Foot, N. J., Chaplin, T. L., & Young, B. D. (2000). The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific alu-mediated recombination. Human Molecular Genetics, 9(10), 1525–1532. https://doi.org/10.1093/hmg/9.10.1525 

Hou J. W. (2003). Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation. Chang Gung Medical Journal, 26(1), 48–52. http://cgmj.cgu.edu.tw/2601/260107.pdf 

İkbal Atli, E., Gürkan, H., Vatansever, Ü., Ulusal, S., & Tozkir, H. (2016). A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. Balkan Journal of Medical Genetics: BJMG, 18(2), 77–82. https://doi.org/10.1515/bjmg-2015-0089 

Imataka, G., Takaya, Y., Hagisawa, S., Yamanouchi, H., & Eguchi, M. (2004). Trisomy 11/22 diagnosed by spectral karyotyping (SKY). Genetic Counseling (Geneva, Switzerland), 15(3), 391–394.

Iselius, L., & Faxelius, G. (1978). Trisomy 22 in a newborn girl with multiple malformations. Hereditas, 89(2), 269–271. https://doi.org/10.1111/j.1601-5223.1978.tb01286.x 

Iselius, L., Lindsten, J., Aurias, A., Fraccaro, M., Bastard, C., Bottelli, A. M., Bui, T. H., Caufin, D., Dalprà, L., & Delendi, N. (1983). The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Human Genetics, 64(4), 343–355. https://doi.org/10.1007/BF00292366 

Ivanovic V, Grkovic S. 2003. Unbalanced 11;22 translocation – case report. ABSTRACT-4th European Cytogenetics Conference, Italy.

Jancevska, S., Kitanovski, M., Laban, N., Danilovski, D., Tasic, V., & Gucev, Z. S. (2015). Emanuel Syndrome (ES): new case-report and review of the literature. Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 36(1), 205–208. 

Jobanputra, V., Chung, W. K., Hacker, A. M., Emanuel, B. S., & Warburton, D. (2005). A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenatal Diagnosis, 25(8), 683–686. https://doi.org/10.1002/pd.1196 

Jun, Y.S., So, C.H., Yu, S.T., Park, D.S., Cho, E.H., & Oh, Y.K. (2010). A case of supernumerary derivative (22) syndrome resulting from a paternal balanced translocation. Journal of the Korean Society of Neonatology;17(1):127-131. https://neo-med.org/upload/pdf/J%20Korean%20Soc%20Neonatol._17_1_127_131.pdf 

Kadir, R. A., Hastings, R., & Economides, D. L. (1997). Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report. Prenatal Diagnosis, 17(8), 761–764. 

Kamath, V., Srivastava, V.M., Yuvarani, S., Chacko, M.P., Bhattacharya, S.K., Oomen, S.P., Danda, S & Korula, G. (2019). The constitutional balanced translocation t(11;22)(q23.3q11.2)-An Indian account. Journal of Clinical and Diagnostic Research. DOI: 10.7860/JCDR/2019/36950.12438 https://www.jcdr.net/articles/PDF/12438/36950_CE[Ra1]_F(SL)_PF1(AGAK)_PFA(AK)_PB(AG_SHU)_PN(SL).pdf 

Kankante, D. S., Misal, D. G., & Mhaske, D. S. N. (2018). Emanuel Syndrome: A Case Report. VIMS Health Science Journal, 5(3), 131-132. Retrieved from https://vimshsj.edu.in/index.php/main/article/view/104 

Kapoor S. (2015). Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. Journal of Pediatric Neurosciences, 10(2), 194–195. https://doi.org/10.4103/1817-1745.159183 

Karempelis, P., Hagen, M., Morrell, N., & Roby, B. B. (2020). Associated syndromes in patients with Pierre Robin Sequence. International Journal of Pediatric Otorhinolaryngology, 131, 109842. https://doi.org/10.1016/j.ijporl.2019.109842 

Karimi-Nejad, R., Ghofrani, M., Najafi, A., & Karimi-Nejad, M.H. (1989). Reconsideration of the cat eye syndrome: Reciprocal translocation t(11,22) leading t partial trisomy of 11q and 22. Medical Journal of The Islamic Republic of Iran (MJIRI)Volume 3, Issue 1 And 2 (8-1989)     https://mjiri.iums.ac.ir/browse.php?a_id=1607&sid=1&slc_lang=fa 

Kariminejad, M.H., Moshtagh, A., & Kariminejad, R. (2013). Translocation Between Chromosomes 11 and 22 [t(11,22)]: The Most Common Non Robertsonian Translocation Evaluation of 38 Cases of t(11,22) and a Review of the Literature. Genetics in the Third Millennium, 11, 3180-3189.

Kashiwagi, Y. , Morishima, Y. , Agata, K. , Go, S. , Nishimata, S. , Numabe, H. and Kawashima, H. (2017) Efficacy of Intravenous Immunoglobulin in a Case of Emanuel Syndrome. Open Journal of Pediatrics, 7, 32-36. doi: 10.4236/ojped.2017.71005

Katafuchi, Y., Hashino, K., Maeno, Y., Komori, H., Yamashita, Y., Horikawa, M., Abe, K., Niikawa, N., & Kato, H. (1990). Partial trisomy 22 with Dandy-Walker malformation. Acta Paediatrica Japonica : Overseas Edition, 32(5), 566–570. https://doi.org/10.1111/j.1442-200x.1990.tb00883.x 

Kato, T., Inagaki, H., Kogo, H., Ohye, T., Yamada, K., Emanuel, B. S., & Kurahashi, H. (2008). Two different forms of palindrome resolution in the human genome: deletion or translocation. Human Molecular Genetics, 17(8), 1184–1191. https://doi.org/10.1093/hmg/ddn008 

Kato, T., Inagaki, H., Yamada, K., Kogo, H., Ohye, T., Kowa, H., Nagaoka, K., Taniguchi, M., Emanuel, B. S., & Kurahashi, H. (2006). Genetic variation affects de novo translocation frequency. Science (New York, N.Y.), 311(5763), 971. https://doi.org/10.1126/science.1121452 

Kato, T., Yamada, K., Inagaki, H., Kogo, H., Ohye, T., Emanuel, B. S., & Kurahashi, H. (2007). Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm. Fertility and Sterility, 88(5), 1446–1448. https://doi.org/10.1016/j.fertnstert.2007.01.019 

Kazandi, M., Turan, V., Zeybek, B, & Argon, A. (2010). Emanuel Syndrome. Ege Journal of Medicine. 49(3):209-211. https://www.researchgate.net/publication/236659695_Emanuel_Syndrome 

Kee, S. K., See, V. H., Chia, P., Tan, W. C., Tien, S. L., & Lim, S. T. (2013). Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2). Journal of Pediatric Genetics, 2(1), 37–41. https://doi.org/10.3233/PGE-13046

Kessel, E., & Pfeiffer, R. A. (1977). 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22. Human Genetics, 37(1), 111–116. https://doi.org/10.1007/BF00293781 

Tsukamoto, M., Hitosugi, T., Esaki, K., & Yokoyama, T. (2016). Anesthetic Management of a Patient With Emanuel Syndrome. Anesthesia Progress, 63(4), 201–203. https://doi.org/10.2344/16-00028.1 

Kim JH, Kim Y, Lee BH, Kim J, Seo E, Yoo H. (2012). A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation.  Journal of Genetic Medicine 9:35-37.  https://doi.org/10.5734/JGM.2012.9.1.35 

Koduru, P. R., & Chaganti, R. S. (1989). Meiotic chromosome segregation in human t(11;22)(q23;q11) carriers: a theoretical consideration. Genome, 32(1), 24–29. https://doi.org/10.1139/g89-405 

Kogo, H., Inagaki, H., Ohye, T., Kato, T., Emanuel, B. S., & Kurahashi, H. (2007). Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats. Nucleic Acids Research, 35(4), 1198–1208. https://doi.org/10.1093/nar/gkm036 

Kulharya, A. S., Lovell, C. M., & Flannery, D. B. (2002). Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies. American Journal of Medical Genetics, 113(4), 367–370. https://doi.org/10.1002/ajmg.b.10801 

Kurahashi, H., & Emanuel, B. S. (2001). Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Human Molecular Genetics, 10(23), 2605–2617. https://doi.org/10.1093/hmg/10.23.2605 

Kurahashi, H., & Emanuel, B. S. (2001). Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nature Genetics, 29(2), 139–140. https://doi.org/10.1038/ng1001-139 

Kurahashi, H., Inagaki, H., Ohye, T., Kogo, H., Kato, T., & Emanuel, B. S. (2006). Palindrome-mediated chromosomal translocations in humans. DNA Repair, 5(9-10), 1136–1145. https://doi.org/10.1016/j.dnarep.2006.05.035 

Kurahashi, H., Inagaki, H., Yamada, K., Ohye, T., Taniguchi, M., Emanuel, B. S., & Toda, T. (2004). Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. The Journal of Biological Chemistry, 279(34), 35377–35383. https://doi.org/10.1074/jbc.M400354200 

Kurahashi, H., Inagaki, H., Ohye, T., Kogo, H., Tsutsumi, M., Kato, T., Tong, M., & Emanuel, B. S. (2010). The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clinical Genetics, 78(4), 299–309. https://doi.org/10.1111/j.1399-0004.2010.01445.x 

Kurahashi, H., Shaikh, T. H., & Emanuel, B. S. (2000). Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. Human Molecular Genetics, 9(18), 2727–2732. https://doi.org/10.1093/hmg/9.18.2727 

Kurahashi, H., Shaikh, T. H., Zackai, E. H., Celle, L., Driscoll, D. A., Budarf, M. L., & Emanuel, B. S. (2000). Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). American Journal of Human Genetics, 67(3), 763–768. https://doi.org/10.1086/303054 

Kurahashi, H., Shaikh, T. H., Hu, P., Roe, B. A., Emanuel, B. S., & Budarf, M. L. (2000). Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Human Molecular Genetics, 9(11), 1665–1670. https://doi.org/10.1093/hmg/9.11.1665 

Laurent, C., Biemont, M. C., Bethenod, M., Cret, L., & David, M. (1975). Deux observations de trisomie liq(q23.1 leads to qter) avec la mème anomalie des organes genitaux externes [2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia]. Annales de Genetique, 18(3), 179–184. 

Li, F., Tang, J., Xie, X., Tang, S., Wu, A., Tang, Q., Tan, W., & Guo, X. (2019). Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese Journal of Medical Genetics, 36(6), 632–635. https://doi.org/10.3760/cma.j.issn.1003-9406.2019.06.026 

Liehr, T., Acquarola, N., Pyle, K., St-Pierre, S., Rinholm, M., Bar, O., Wilhelm, K., & Schreyer, I. (2018). Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos. Clinical Genetics, 93(2), 378–381. https://doi.org/10.1111/cge.13087 

Lin, A. E., Bernar, J., Chin, A. J., Sparkes, R. S., Emanuel, B. S., & Zackai, E. H. (1986). Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clinical Genetics, 29(4), 269–275. https://doi.org/10.1111/j.1399-0004.1986.tb01254.x 

Lindblom, A., Sandelin, K., Iselius, L., Dumanski, J., White, I., Nordenskjöld, M., & Larsson, C. (1994). Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. American Journal of Human Genetics, 54(5), 871–876. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918254/ 

Lindenbaum R. H. (1990). Unusual segregation of constitutional 11q;22q translocation may be explained by crossover in interchange segment, followed by 3:1 segregation at meiosis I. Human Genetics, 85(1), 143. https://doi.org/10.1007/BF00276346 

Lockwood, D. H., Farrier, A., Hecht, F., & Allanson, J. (1989). Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis. Human Genetics, 83(3), 287–288. https://doi.org/10.1007/BF00285174 

Luo, J. W., Yang, H., Tan, Z. P., Tu, M., Luo, H., Yang, Y. F., & Xie, L. (2017). A clinical and molecular analysis of a patient with Emanuel syndrome. Molecular Medicine Reports, 15(3), 1348–1352. https://doi.org/10.3892/mmr.2017.6107

Luo, Y., Lin, J., Sun, Y., Qian, Y., Wang, L., Chen, M., Dong, M., & Jin, F. (2020). Non-invasive prenatal screening for Emanuel syndrome. Molecular Cytogenetics, 13, 9. https://doi.org/10.1186/s13039-020-0476-7 

Lurie, I. W., & Podleschuk, L. V. (1992). 11q;22q translocation: Third case of imbalance not due to 3:1 nondisjunction in first meiosis. American Journal of Medical Genetics, 42(2), 216. https://doi.org/10.1002/ajmg.1320420218 

Lur'e, I. V., Rumiantseva, N. V., Podleshchuk, L. V., Kozlova, S. I., Kulak, V. D., Naumchik, I. V., Gorelik, L. B., Zolotukhina, T. V., & Kuznetsov, M. I. (1992). Translokatsii 11q; 22q: kliniko-tsitogeneticheskoe issledovanie [Translocation 11q;22q: a clinico-cytogenetic study]. Genetika, 28(10), 129–135. 

Mackie Ogilvie, C., & Scriven, P. N. (2002). Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. European Journal of Human Genetics : EJHG, 10(12), 801–806. https://doi.org/10.1038/sj.ejhg.5200895 

Macville, M. V., Loneus, W. H., Marcus-Soekarman, D., Huys, E. H., Schoenmakers, E. F., Schrank-Hacker, A., Emanuel, B. S., & Engelen, J. J. (2006). XX male with sex reversal and a de novo 11;22 translocation. American Journal of Medical Genetics. Part A, 140(18), 1973–1977. https://doi.org/10.1002/ajmg.a.31397 

Maluf SW, Felix TM, Schwartz IVD. 2000. Partial trisomy 22qpter-q11 and 11q23-qter: an extra chromosome originated from a constitutional t(11;22) translocation in a Brazilian family. Brazilian Journal of Dysmorphology and Speech-Hearing Disorders. 3:11-16. {ABSTRACT}

Martin R. H. (1984). Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Clinical Genetics, 25(4), 357–361. https://doi.org/10.1111/j.1399-0004.1984.tb02004.x 

Musa, J., Horjeti, E., Guy, A., Saliaj, K., Shtiza, S., Ceka, E., Musa, D., & Rakovica, L. Diagnosis and Management of Genetic Derivation 22 and 11 Chromosome-Emanuel Syndrome in 10-Year Old Boy. Journal of Pediatrics, Perinatology and Child Health 4 (2020): 052-057. https://www.fortunejournals.com/articles/diagnosis-and-management-of-genetic-derivation-22-and-11-chromosomeemanuel-syndrome-in-10year-old-boy.html 

Najafzadeh, T. M., & Dumars, K. W. (1981). Duplication of distal 11q and 22p occurrence in two unrelated families. American Journal of Medical Genetics, 8(3), 341–347. https://doi.org/10.1002/ajmg.1320080313 

Nakai, H., Yamamoto, Y., & Kuroki, Y. (1979). Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations. Human Genetics, 51(3), 349–355. https://doi.org/10.1007/BF00283408 

Narahara, K., Kodama, Y., Kimura, S., Kamoi, M., Inoue, H., & Kimoto, H. (1979). A case of partial trisomy 22 resulting from maternal 11/22 translocation. Jinrui idengaku zasshi. The Japanese Journal of Human Genetics, 24(4), 253–258. https://doi.org/10.1007/BF01907825 

Nishinarita, R., Mihara, T., Nakamura, N., Miyamoto, Y., & Ka, K. (2015). Anesthetic management of pediatric patients with Emanuel syndrome. Journal of Anesthesia, 29(3), 450–452. https://doi.org/10.1007/s00540-014-1955-y 

Noel, B., Levy, M., & Rethoré, M. O. (1976). Trisomie partielle du bras long du chromosome 11 par malségrégation d'une translocation maternelle t(11;22)(q231; q 111) [Partial trisomy of the long arm of the chromosome 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)]. Annales de Genetique, 19(2), 137. 

Noir, A., Leroux, M., Bresson, J. L., Menget, A., Burguet, A., & Raffi, A. (1987). La trisomie 11q: à propos de deux cas [11q trisomy: apropos of 2 cases]. Pediatrie, 42(6), 441–444.

Oakley, J. R., Else, P., Asplin, P., & Taitz, L. S. (1976). Balanced translocation, impaired sperm motility, and offspring anomaly. Archives of Disease in Childhood, 51(8), 638–640. https://doi.org/10.1136/adc.51.8.638 

Ohye, T., Inagaki, H., Kato, T., Tsutsumi, M., & Kurahashi, H. (2014). Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. Pediatrics International: Official Journal of the Japan Pediatric Society, 56(4), 462–466. https://doi.org/10.1111/ped.12437 

Pai, G. S., Thomas, G. H., Leonard, C. O., Ward, J. C., Valle, D. L., & Pyeritz, R. E. (1979). Syndromes due to chromosomal abnormalities: partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. The Johns Hopkins Medical Journal, 145(4), 162–169. 

Pallotta, R., Fusilli, P., Ehresmann, T., Cinti, R., Verrotti, A., & Morgese, G. (1996). Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome. Clinical Genetics, 50(5), 411–416. https://doi.org/10.1111/j.1399-0004.1996.tb02398.x 

Pangalos, C., Couturier, J., Bartsocas, C., & Theodorou, S. (1980). Trisomie partielle 11 q par malségrégation d'une translocation maternelle t (11;22) (q23;q11.1) [Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author's transl)]. La Nouvelle Presse Medicale, 9(41), 3065–3067.

Pattemore, P. K., Shaw, R. L., & Gunn, T. R. (1987). The neonatal recognition of partial 11q trisomy (previously 'trisomy 22'). Australian Paediatric Journal, 23(3), 197–199. https://doi.org/10.1111/j.1440-1754.1987.tb00245.x 

Penchaszadeh, V. B., & Coco, R. (1975). Trisomy 22. Two new cases and delineation of the phenotype. Journal of Medical Genetics, 12(2), 193–199. https://doi.org/10.1136/jmg.12.2.193 

Petković, I., de Capoa, A., Giancotti, P., & Barisić, I. (1996). Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I. Clinical Genetics, 50(6), 515–519. https://doi.org/10.1111/j.1399-0004.1996.tb02725.x 

Pohkn H, Thermn E, Uchida I. 1981. Partial 11q trisomy syndrome. Human Genetics 58: 129-134.

Prieto, J. C., Garcia, N. M., Elder, F. F., Zinn, A. R., & Baker, L. A. (2007). Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. Journal of Pediatric Surgery, 42(11), 1928–1932. https://doi.org/10.1016/j.jpedsurg.2007.07.030 

Puranik, C. P., & Katechia, B. (2019). Oral and dental findings in Emanuel syndrome. International Journal of Paediatric Dentistry, 29(5), 677–682. https://doi.org/10.1111/ipd.12502

Rassu S, Pilloni G, Boccone , Puddu R, Bernard L, Rossino R, Gasperini D. 2003. Der(11)t(11;22) resulting from a balanced reciprocal subtelomeric translocation in a Sardinian family. ABSTRACT. 4th European Cytogenetics Conference, Italy.

Rosa, Rafael Fabiano M. et al. Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel). Revista Paulista de Pediatria [online]. 2010, v. 28, n. 3 [Acessado 26 Fevereiro 2022] , pp. 367-371. Disponível em: <https://doi.org/10.1590/S0103-05822010000300017>. Epub 22 Nov 2010. ISSN 1984-0462. https://doi.org/10.1590/S0103-05822010000300017

Saffren, B. D., Capasso, J. E., Zanolli, M., & Levin, A. V. (2018). Ocular manifestations of Emanuel syndrome. American Journal of Medical Genetics. Part A, 176(9), 1964–1967. https://doi.org/10.1002/ajmg.a.40361 

Schinzel, A., Schmid, W., Auf der Maur, P., Moser, H., Degenhardt, K. H., Geisler, M., & Grubisic, A. (1981). Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Human Genetics, 56(3), 249–262. https://doi.org/10.1007/BF00274675 

Shaikh, T. H., Budarf, M. L., Celle, L., Zackai, E. H., & Emanuel, B. S. (1999). Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics, 65(6), 1595–1607. https://doi.org/10.1086/302666 

Shenoy, R. D., Shenoy, V., & Shetty, V. (2018). Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. Case Reports in Genetics, 2018, 1928918. https://doi.org/10.1155/2018/1928918 

Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosome abnormalities, and in infertile men. 2001. Reproduction 121:655-666.

Schoemaker, M. J., Jones, M. E., Higgins, C. D., Wright, A. F., UK Clinical Cytogenetics Group, & Swerdlow, A. J. (2019). Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study. International Journal of Cancer, 145(6), 1493–1498. https://doi.org/10.1002/ijc.32031 

Shokeir M. H. (1978). Complete trisomy 22. Clinical Genetics, 14(3), 139–146. https://doi.org/10.1111/j.1399-0004.1978.tb02119.x

Simi, P., Ceccarelli, M., Barachini, A., Floridia, G., & Zuffardi, O. (1992). The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Human Genetics, 88(4), 482–483. https://doi.org/10.1007/BF00215688 

Slater, H. R., Voullaire, L. E., Vaux, C. E., Bankier, A., Pertile, M., & Choo, K. H. (1993). Confirmation of trisomy 22 in two cases using chromosome painting: comparison with t(11;22). American Journal of Medical Genetics, 46(4), 434–437. https://doi.org/10.1002/ajmg.1320460417 

Soler, A., Carrio, A., Perez-Vidal, M. T., Borrell, A., & Fortuny, A. (1993). Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid. Prenatal Diagnosis, 13(2), 137–141. https://doi.org/10.1002/pd.1970130209 

Soto-Brambila, A. P., Marín-Medina, A., Michel-Ocampo, M., Figuera-Villanueva, L. E., & Rivero-Moragrega, P. (2018). Emanuel Syndrome: first case reported in Mexico. Investigación Clínica, 59(1), 41- 46. Recuperado a partir de https://www.produccioncientificaluz.org/index.php/investigacion/article/view/29078 

Sou, S., Takabayashi, T., Sasaki, H., Sasamoto, K., Shintaku, Y., Li, Z. J., Ozawa, N., & Yajima, A. (1987). Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11; 22) (q23; q11). The Tohoku Journal of Experimental Medicine, 153(4), 389–393. https://doi.org/10.1620/tjem.153.389 

Spiteri, E., Babcock, M., Kashork, C. D., Wakui, K., Gogineni, S., Lewis, D. A., Williams, K. M., Minoshima, S., Sasaki, T., Shimizu, N., Potocki, L., Pulijaal, V., Shanske, A., Shaffer, L. G., & Morrow, B. E. (2003). Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Human Molecular Genetics, 12(15), 1823–1837. https://doi.org/10.1093/hmg/ddg203 

Stankiewicz, P., Korniszewski, L., Bocian, E., & Stańczak, H. (1996). Marker chromosomowy jako produkt rodzinnej translockacji (11;22) rozpoznanej metodami cytogenetyki molekularnej [Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods]. Pediatria Polska, 71(3), 241–245. 

Tachdjian, G., Muti, C., Gaudelus, J., Druart, L., Martin, B., Tamboise, E., & Nessmann, C. (1992). Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2). Annales de Genetique, 35(4), 231–233. 

Tapia-Páez, I., O'Brien, K. P., Kost-Alimova, M., Sahlén, S., Kedra, D., Bruder, C. E., Andersson, B., Roe, B. A., Hu, P., Imreh, S., Blennow, E., & Dumanski, J. P. (2000). Fine mapping of the constitutional translocation t(11;22)(q23;q11). Human Genetics, 106(5), 506–516. https://doi.org/10.1007/s004390000287 

Tovo, P. A., Davi, G., Fraceschini, P., & Delpiano, A. (1986). Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22. Thymus, 8(5), 313–318. 

Toyoshima, M., Yonee, C., Maegaki, Y., Yamamoto, T., Shimojima, K., Maruyama, S., & Kawano, Y. (2009). Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. American journal of medical genetics. Part A, 149A(8), 1722–1726. https://doi.org/10.1002/ajmg.a.32762 

Tsukamoto, M., Hitosugi, T., Esaki, K., & Yokoyama, T. (2016). Anesthetic Management of a Patient With Emanuel Syndrome. Anesthesia Progress, 63(4), 201–203. https://doi.org/10.2344/16-00028.1 

Vahidi Mehrjardi, M. Y., Dehghan Tezerjani, M., Nori-Shadkam, M., Kalantar, S. M., & Dehghani, M. (2016). Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report. Iranian Journal of Public Health, 45(3), 376–380.

Van Assche, E., Staessen, C., Vegetti, W., Bonduelle, M., Vandervorst, M., Van Steirteghem, A., & Liebaers, I. (1999). Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Molecular Human Reproduction, 5(7), 682–690. https://doi.org/10.1093/molehr/5.7.682 

Vigliano P, Duca S, Isocrono A, & Silengo M. (2003). Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report. Journal of Pediatric Neurology 1(1):39-42. https://content.iospress.com/articles/journal-of-pediatric-neurology/jpn1-1-08 

Welter, D. A., Scharff, L., 3rd, Teal, N. M., & Thevaos, T. G. (1978). Trisomy 22 in a 20-year-old female. Human Genetics, 43(3), 347–351. https://doi.org/10.1007/BF00278845

Werding, N., Holland, H., Hueckel, D., Froster, U. G., Häusler, H. J., & Kiess, W. (2003). Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases. Acta Paediatrica (Oslo, Norway : 1992), 92(7), 865–868. https://doi.org/10.1111/j.1651-2227.2003.tb02550.x  

Woo, H. Y., Cho, H. J., Kong, S. Y., Kim, H. J., Jeon, H. B., Kim, E. C., Park, H., Kim, Y. J., & Kim, S. H. (2003). Marker chromosomes in Korean patients: incidence, identification and diagnostic approach. Journal of Korean Medical Science, 18(6), 773–778. https://doi.org/10.3346/jkms.2003.18.6.773 

Wieland, I., Muschke, P., Volleth, M., Röpke, A., Pelz, A. F., Stumm, M., & Wieacker, P. (2006). High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes, Chromosomes & Cancer, 45(10), 945–949. https://doi.org/10.1002/gcc.20358 

Xie, C. L., & Cardenas, A. M. (2019). Neuroimaging findings in Emanuel Syndrome. Journal of Radiology Case Reports, 13(10), 1–5. https://doi.org/10.3941/jrcr.v13i10.3625 

Yik, M.Y., Mydin, R.B., Moses, E.J., Zaini, S.H.M, Azhari, A.R., & Yusoff, N.M. (2020). a case study of distinctive phenotypes arising from emanuel syndrome in two karyotypically identical patients. Malaysian Journal of Medicine and Health Science. 16(SUPP2):78-80. https://medic.upm.edu.my/upload/dokumen/2020051111452012_MJMHS_0463_11_5_2020.pdf 

Yosunkaya Fenerci, E., Guven, G. S., Kuru, D., Yilmaz, S., Tarkan-Argüden, Y., Cirakoglu, A., Deviren, A., Yüksel, A., & Hacihanefioğlu, S. (2007). Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. Genetic Counseling (Geneva, Switzerland), 18(4), 401–408. 

Youings, S., Ellis, K., Ennis, S., Barber, J., & Jacobs, P. (2004). A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. American Journal of Medical Genetics. Part A, 126A(1), 46–60. https://doi.org/10.1002/ajmg.a.20553 

Zafar, A., Chaudari, M, & Crossland, D. (2014). Emanuel syndrome with unique cardiac defects: a case series. Infant Journal 10(3), 101-102. https://www.infantjournal.co.uk/pdf/inf_057_dia.pdf 

Zackai, E. H., & Emanuel, B. S. (1980). Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. American Journal of Medical Genetics, 7(4), 507–521. https://doi.org/10.1002/ajmg.1320070412 

Zenagui, R., Bernicot, I., Ranisavljevic, N., Haquet, E., Ferrieres-Hoa, A., Pellestor, F., & Anahory, T. (2019). Inheritance of imbalances in recurrent chromosomal translocation t(11;22): clarification by PGT-SR and sperm-FISH analysis. Reproductive Biomedicine Online, 39(1), 40–48. https://doi.org/10.1016/j.rbmo.2019.02.010 

Zienkiewicz, E. (2019). Emanuel syndrome: the case study. European Academy of Childhood Disability. https://edu.eacd.org/node/620 

Zhao, Y., Pang, H., Gao, M., Feng, X., Guan, Y., Zhao, H., Tong, D., Hua, J., Cao, X., He, S., & Li-Ling, J. (2017). Genetic diagnosis and follow up of a fetus with Emanuel syndrome Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese Journal of Medical Genetics, 34(5), 709–713. https://doi.org/10.3760/cma.j.issn.1003-9406.2017.05.020 

Zou, P. S., Li, H. F., Chen, L. S., Ma, M., Chen, X. H., Xue, D., & Cao, D. H. (2016). A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21. Genetics and Molecular Research: GMR, 15(2), https://doi.org/10.4238/gmr.15028140