Document Detail


Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.
MedLine Citation:
PMID:  3791674     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11q24.1. A very distal 11q24.2 deletion in the second patient resulted in a completely different phenotype.
Authors:
J P Fryns; A Kleczkowska; M Buttiens; P Marien; H van den Berghe
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  30     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1986 Oct 
Date Detail:
Created Date:  1987-02-12     Completed Date:  1987-02-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  255-60     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 14
Craniosynostoses / genetics
Humans
Male
Phenotype
Syndrome
Translocation, Genetic

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


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