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De novo interstitial deletion q16.2q21 on chromosome 6

De novo interstitial deletion q16.2q21 on chromosome 6 A de novo interstitial deletion of 6q16.2q21 was observed in a 23‐month‐old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader‐Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings. © 1995 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

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References (25)

Publisher
Wiley
Copyright
Copyright © 1995 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320550326
pmid
7726240
Publisher site
See Article on Publisher Site

Abstract

A de novo interstitial deletion of 6q16.2q21 was observed in a 23‐month‐old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader‐Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings. © 1995 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jun 30, 1997

Keywords: ; ; ; ;

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