Document Detail

A new inherited interstitial deletion of the distal long arm of chromosome 4.
MedLine Citation:
PMID:  10799975     Owner:  NLM     Status:  MEDLINE    
A 12-year-old boy showed mild dysmorphic features, late presentation of learning difficulties and behaviour problems, obesity, breast hypertrophy and bilateral slipped capital femoral epiphysis. His mother also has mild dysmorphic features, obesity, and a similar history of late presentation of learning difficulties and behaviour problems. Cytogenetic analysis demonstrated an inherited distal long arm deletion of one chromosome 4. The boy's karyotype was interpreted as 46,XY,del(4)(q32 q33)mat and the mother's karyotype as 46,XX,del(4)(q32 q33). This is the second report of an inherited distal 4q deletion and the first report of interstitial chromosome 4 deletion involving q32 q33 segments.
S M Aladhami; C P Gould; F A Muhammad
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human heredity     Volume:  50     ISSN:  0001-5652     ISO Abbreviation:  Hum. Hered.     Publication Date:    2000 Mar-Apr
Date Detail:
Created Date:  2000-06-20     Completed Date:  2000-06-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0200525     Medline TA:  Hum Hered     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  146-50     Citation Subset:  IM    
Copyright Information:
Copyright 1999 S. Karger AG, Basel
Paediatric Department, Warwick Hospital, Warwick, UK.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Banding
Chromosomes, Human, Pair 4*
Gene Deletion*

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