Document Detail

A de novo 6q11-q15 duplication investigated by chromosome painting.
MedLine Citation:
PMID:  7889650     Owner:  NLM     Status:  MEDLINE    
A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to our knowledge the duplication of the proximal region q11-q15 has not previously been reported.
D Giardino; N Rizzi; V Briscioli; D Bettio
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  46     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1995-04-18     Completed Date:  1995-04-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  377-9     Citation Subset:  IM    
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
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MeSH Terms
Chromosome Aberrations* / genetics
Chromosome Banding
Chromosomes, Human, Pair 6* / genetics
In Situ Hybridization, Fluorescence

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