Document Detail


Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
MedLine Citation:
PMID:  16053913     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Ring chromosome 6 (RC6) is a rare constitutional abnormality, with variable material loss, leading to a variable clinical phenotype: minimal physical anomalies and mild psychomotor retardation to severe physical and mental defects. Among the 22 published cases, only five have been prenatally detected. We describe here a RC6 prenatally diagnosed. Ultrasound follow-up showed growth retardation and cerebellar hypoplasia. Magnetic resonance imaging (MRI) confirmed this, but showed a partial corpus callosum agenesis, leading to amniocentesis and revealing the chromosomal abnormality. Imaging features were correlated with autopsy findings.
Authors:
Joris Andrieux; Louise Devisme; Anne-Sylvie Valat; Yann Robert; Chrystele Frnka; Jean-Bernard Savary
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2005-02-12
Journal Detail:
Title:  European journal of medical genetics     Volume:  48     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2005 Apr-Jun
Date Detail:
Created Date:  2005-08-01     Completed Date:  2005-09-15     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  199-206     Citation Subset:  IM    
Affiliation:
Laboratoire de Génétique Médicale-Barre Nord-Hôpital Jeanne de Flandre, CHRU Lille, 59037 Lille cedex, France. j-andrieux@chru-lille.fr
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MeSH Terms
Descriptor/Qualifier:
Adult
Cerebellum / abnormalities*,  ultrasonography
Chromosome Banding
Chromosomes, Human, Pair 6 / genetics*
Corpus Callosum / abnormalities*,  ultrasonography
Craniofacial Abnormalities / genetics,  ultrasonography
Female
Humans
Magnetic Resonance Imaging
Male
Phenotype
Pregnancy
Prenatal Diagnosis
Ring Chromosomes*
Ultrasonography, Prenatal

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


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