| 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. | |
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MedLine Citation:
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PMID: 16053913 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Joris Andrieux; Louise Devisme; Anne-Sylvie Valat; Yann Robert; Chrystele Frnka; Jean-Bernard Savary |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2005-02-12 |
Journal Detail:
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Title: European journal of medical genetics Volume: 48 ISSN: 1769-7212 ISO Abbreviation: Eur J Med Genet Publication Date: 2005 Apr-Jun |
Date Detail:
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Created Date: 2005-08-01 Completed Date: 2005-09-15 Revised Date: 2008-05-28 |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 199-206 Citation Subset: IM |
Affiliation:
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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:
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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 |
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