Document Detail


3p interstitial deletion: novel case report and review.
MedLine Citation:
PMID:  22290856     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
3p interstitial deletions have emerged in recent years as a new cause of neurodevelopmental delay and intellectual disability. Since the first report of this condition in 1979, 16 cases have been described in the literature, delineating it as a presumptive syndrome. Here, we add a novel case presenting severely delayed neurodevelopment and psychomotor development; facial dysmorphism (square facies, broad forehead, short palpebral fissures, epicanthic folds, broad nasal bridge, and low-set malformed ears); cerebral, cardiac, and genital malformations; hand and feet anomalies; sacral sinus; and hearing impairment. Genetic investigations revealed a del(3)(p12.3p14.1) of 12.5 Mb, including 31 ORFs, among which ROBO2, PDZRN3, MITF, and FOXP1 are known to act in neurodevelopment. The clinical features of our patient are compared with those previously reported in the literature, thus providing further support for the delineation of the 3p interstitial deletion syndrome.
Authors:
Andreea Cristina Ţuţulan-Cunită; Sorina Mihaela Papuc; Aurora Arghir; Katharina Magdalena Rötzer; Charulata Deshpande; Agripina Lungeanu; Magdalena Budişteanu
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2012-01-30
Journal Detail:
Title:  Journal of child neurology     Volume:  27     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-23     Completed Date:  2012-12-10     Revised Date:  2013-03-05    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1062-6     Citation Subset:  IM    
Affiliation:
Victor Babes National Institute of Pathology, Bucharest, Romania.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics
Developmental Disabilities / complications,  genetics*
Face / abnormalities
Humans
Intellectual Disability / complications,  genetics*
Karyotyping
Male
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Comments/Corrections
Erratum In:
J Child Neurol. 2013 Feb;28(2):282-3

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


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