Document Detail


Partial deletion 10p syndrome. Report of two patients.
MedLine Citation:
PMID:  1524405     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.
Authors:
M G Obregon; R Mingarelli; A Giannotti; A di Comite; F S Spedicato; B Dallapiccola
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  35     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1992  
Date Detail:
Created Date:  1992-10-15     Completed Date:  1992-10-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  101-4     Citation Subset:  IM    
Affiliation:
Ospedale Bambino Gesù, IRCCS, Roma, Italy.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 10*
Female
Humans
Infant
Syndrome

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


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