Document Detail

Interstitial deletion 13q syndromes: a report on two unrelated patients.
MedLine Citation:
PMID:  535887     Owner:  NLM     Status:  MEDLINE    
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.
M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
Related Documents :
12351217 - Mitochondrial respiratory rates and activities of respiratory chain complexes correlate...
20636277 - Comparison of protease inhibitor (pi) resistance-associated mutations between pi-naïve...
8989457 - Identification of mosaicism in prader-willi syndrome using fluorescent in situ hybridiz...
8582397 - Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a pro...
7753457 - Plasma kinetics of 125i-labelled amyloid p component in beta 2m amyloidosis: a possible...
23842487 - Hemolysis and schistocytosis in the emergency department: consider pseudothrombotic mic...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, 13-15*
Mental Retardation / genetics
Psychomotor Disorders / genetics

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

Previous Document:  Pure trisomy 17p in 60% cells.
Next Document:  An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.