Proximal 6q deletion phenotype: findings in de novo interstitial deletion 6g14.1g15

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A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824?99,824,130), demonstrating higher resolution than the conventional...

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A case of de novo interstitial deletion 3q.

A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, mult...

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Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

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ژورنال

عنوان ژورنال: Genetics in Medicine

سال: 2000

ISSN: 1098-3600,1530-0366

DOI: 10.1097/00125817-200001000-00163