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Title: 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. 24 refs., 3 figs., 2 tabs.
Authors:
; ;  [1]
  1. Universidad Complutense, Madrid (Spain) [and others
Publication Date:
OSTI Identifier:
91130
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 55; Journal Issue: 3; Other Information: PBD: 30 Jan 1995
Sponsoring Org:
USDOE
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 6; CHROMOSOMAL ABERRATIONS; PATIENTS; PHENOTYPE; MENTAL DISORDERS; CONGENITAL MALFORMATIONS; GENES; BANDING TECHNIQUES