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Distal deletion of the short arm of chromosome 6

✍ Scribed by Zurcher, Vickie L. ;Golden, Wendy L. ;Zinn, Arthur B.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 443 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350223

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✦ Synopsis

Abstract

We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively non‐specific phenotype, with the possible exception of unusual congenital eye findings. This apparent association of congenital eye defects with distal del(6p) was supported by comparison with patients having other deletions of chromosome 6, particularly those with ring chromosome 6.

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