Document Detail

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
MedLine Citation:
PMID:  16179229     Owner:  NLM     Status:  MEDLINE    
We report on a patient with an interstitial 6q deletion presenting with moderate mental retardation, persisting hypotonia, facial dysmorphism, but no internal malformations. Standard cytogenetic analysis identified a de novo interstitial 6q deletion. Molecular karyotyping using a 1 Mb array estimated the size of the deletion at approximately 14 Mb encompassing band q16 of chromosome 6. This case report illustrates how the molecular delineation enables improved genotype-phenotype correlations of chromosomal abnormalities to be made and may improve medical care and genetic counselling in individuals with chromosomal imbalances.
Cédric Le Caignec; Ann Swillen; Elvire Van Asche; Jean-Pierre Fryns; Joris R Vermeesch
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Publication Detail:
Type:  Case Reports; Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of medical genetics     Volume:  48     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2005 Jul-Sep
Date Detail:
Created Date:  2005-09-23     Completed Date:  2005-11-09     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:  339-45     Citation Subset:  IM    
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium.
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MeSH Terms
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 6 / genetics*
Craniofacial Abnormalities / diagnosis,  genetics*
Genomic Instability
Mental Retardation / diagnosis,  genetics*
Muscle Hypotonia / diagnosis,  genetics*
Oligonucleotide Array Sequence Analysis / methods

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

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