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Report of two cases of distal deletion of the long arm of chromosome 6

✍ Scribed by Stevens, Cathy A ;Fineman, Robert M. ;Breg, W. Roy ;Silken, Alan B. ;Optiz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 398 KB
Volume: 29
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320290410

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✦ Synopsis

We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q2546qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have developmental retardation, micrccephaly, craniofacial anomalies, various types of congenital heart defects, and anomalies of hands and feet. The facial similarities of our two patients and those in six published photographs are subtle and may represent an emerging phenotype.

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