Document Detail


Interstitial deletion of 4(q21q25) in a liveborn male.
MedLine Citation:
PMID:  1887853     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.
Authors:
N C Rose; A Schneider; D M McDonald-McGinn; C Caserta; B S Emanuel; E H Zackai
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  40     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Jul 
Date Detail:
Created Date:  1991-10-10     Completed Date:  1991-10-10     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  77-9     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 4*
Humans
Infant, Newborn
Karyotyping
Male

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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