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Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5

✍ Scribed by Keppen, L. D. ;Gollin, S. M. ;Edwards, D. ;Sawyer, J. ;Wilson, W. ;Overhauser, J.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 457 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440317

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✦ Synopsis

We report on a %generation family with an interstitial deletion of the short a r m of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del( 5) (pter->p14.3::~13.3->qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13.

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