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A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother


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Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet Part A. 2009; 149A(8): 1712-1721.CarterMTSt PierreSAZackaiEHEmanuelBSBoycottKMPhenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individualsAm J Med Genet Part A2009149A81712172110.1002/ajmg.a.32957Search in Google Scholar

Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS. Derivative 11;22 (emanuel) syndrome:A case reportand a review. Case Reports Pediatr. 2013; 2013: 237935. 10.1155/2013/237935.ChoudharyMGBabajiPSharmaNDhamankarDNaregalGReddyVSDerivative 1122 (emanuel) syndrome:A case report and a reviewCase Reports Pediatr2013201323793510.1155/2013/23793510.1155/2013/237935Search in Google Scholar

Kadir RA, Hastings R, Economides DL. Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: Acase report. Prenat Diagn. 1997; 17(8): 761-764.KadirRAHastingsREconomidesDLPrenatal diagnosis of supernumerary chromosomederivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: Acase reportPrenat Diagn199717876176410.1002/(SICI)1097-0223(199708)17:8<761::AID-PD121>3.0.CO;2-ASearch in Google Scholar

Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result. Pediatr Int. 2014; 56(4): 462-466.OhyeTInagakiHKatoTTsutsumiMKurahashiHPrevalence of Emanuel syndrome: Theoretical frequency and surveillance resultPediatr Int201456446246610.1111/ped.12437Search in Google Scholar

OMIM 609029, Emanuel syndrome (http://www. omim.org/entry/609029).OMIM 609029, Emanuel syndrome (http://www. omim.org/entry/609029)Search in Google Scholar

eISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other