Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).
AMERICAN JOURNAL OF MEDICAL GENETICS(1999)
摘要
We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, microcephaly, short neck, apparently low-set ears, micrognathia, camptodactyly, mild rocker bottom feet, and hammer toe. Cardiac anomalies included a large ventricular septal defect, patent ductus arteriosus, pulmonary hypertension and hypoplastic right ventricle, She died at age 3 months. (C) 1999 Wiley-Liss, Inc.
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关键词
interstitial 5q deletion,partial 5q deletion,del(5) (q33q35),maternal insertion
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