Document Detail


Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
MedLine Citation:
PMID:  2729355     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.
Authors:
J L Gorski; B A Cox; M Kyine; W Uhlmann; T W Glover
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  32     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1989 Mar 
Date Detail:
Created Date:  1989-06-30     Completed Date:  1989-06-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  350-2     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Michigan Medical Center, Ann Arbor 48109.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology,  physiopathology
Chromosome Aberrations* / pathology,  physiopathology
Chromosome Banding
Chromosome Deletion*
Chromosome Disorders*
Chromosomes, Human, Pair 2*
Facial Muscles / physiopathology
Growth Disorders / genetics,  pathology,  physiopathology
Humans
Infant
Karyotyping
Male
Mental Retardation / genetics
Muscle Hypotonia / genetics*,  pathology
Phenotype
Grant Support
ID/Acronym/Agency:
K11-HD00788/HD/NICHD NIH HHS

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


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