Document Detail


A de novo 6q11-q15 duplication investigated by chromosome painting.
MedLine Citation:
PMID:  7889650     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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    
Affiliation:
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Chromosome Aberrations* / genetics
Chromosome Banding
Chromosomes, Human, Pair 6* / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Trisomy

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


Previous Document:  Antley-Bixler syndrome: report of a patient and review of literature.
Next Document:  Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hype...