Document Detail

Two rare cases of 6p partial deletion.
MedLine Citation:
PMID:  2477178     Owner:  NLM     Status:  MEDLINE    
Two rare cases of 6p partial deletion (6p23----pter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also reviewed.
S M Jalal; V R Macias; H Roop; F Morgan; P King
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  36     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1989 Sep 
Date Detail:
Created Date:  1989-11-03     Completed Date:  1989-11-03     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  196-9     Citation Subset:  IM    
Genetic Screening and Counseling Service, Denton, Texas.
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MeSH Terms
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 6*
Developmental Disabilities / genetics
Ear, External / abnormalities
Mental Retardation / genetics*
Microcephaly / genetics*

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