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Deletion of the distal long arm of chromosome 1: A definable syndrome

✍ Scribed by Johnson, Virginia P. ;Heck, Louis J. ;Carter, Guy A. ;Flom, Jon O. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 633 KB
Volume: 22
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320220405

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✦ Synopsis

Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of lq. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corners of the mouth, thin vermilion borders of lips, long upper lip with smooth philtrum, short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac, genital, and other anomalies, moderate to severe mental retardation, and growth retardation. The deletion includes lq42 or lq43'qter and was a de novo defect in nine of 15 cases.

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