Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome
Emanuel Syndrome Ribbon Circle Cropped

List of References up to January 2022

Articles used in the creation of the website and List of References on t(11;22) and Emanuel Syndrome (aka, supernumerary der(22) syndrome):

References

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. (2022). Emanuel syndrome and congenital diaphragmatic hernia: A systematic review. Journal of Pediatric Surgery, 57(9), 24–28. 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. https://www.researchgate.net/publication/49675804_Emanuel_syndrome_supernumerary_derivative_22_the_result_of_a_maternal_translocation_A_case_report 

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. 

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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 

Also of interest: Articles on Emanuel Syndrome and the 11/22 Translocation

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