Document Detail


t(1;18)(q32.1;q22.1) associated with genitourinary malformations.
MedLine Citation:
PMID:  9831345     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a male infant who has impaired penile development, hypospadias, and mild developmental delay with a 46,XY,t(1;18)(q32.1;q22.1) karyotype. Fluorescent in situ hybridization (FISH) was performed to more precisely map the translocation breakpoint. The translocation breakpoint maps to a region that has been implicated in genitourinary malformations in the 18q- syndrome. This case report suggests that a gene involved in genitourinary development maps at or near the chromosome 18 translocation breakpoint.
Authors:
E R Frizell; R Sutphen; F B Diamond; M Sherwood; J Overhauser
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  54     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-01-13     Completed Date:  1999-01-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  330-3     Citation Subset:  IM    
Affiliation:
Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 1 / genetics*
Chromosomes, Human, Pair 18 / genetics*
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Translocation, Genetic
Urogenital Abnormalities / genetics*,  pathology

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


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