Document Detail


Interstitial deletion 13q syndromes: a report on two unrelated patients.
MedLine Citation:
PMID:  535887     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.
Authors:
M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  52     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1979  
Date Detail:
Created Date:  1980-05-14     Completed Date:  1980-05-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  269-74     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, 13-15*
Female
Humans
Karyotyping
Mental Retardation / genetics
Phenotype
Psychomotor Disorders / genetics

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


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