Document Detail

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
MedLine Citation:
PMID:  14986831     Owner:  NLM     Status:  MEDLINE    
Kabuki syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome that heretofore has had an unknown etiology. Although several cases with KS features have been reported with different chromosome anomalies, none have had an autosomal cytogenetic aberration in common. We found an 8p22-8p23.1 duplication, using comparative genomic hybridization (CGH) in six unrelated patients diagnosed with KS. This observation was confirmed using BAC-FISH in all cases that delimited the duplicated region to approximately 3.5 Mb. No duplication of this region was found in two parents or 20 controls by either CGH or BAC-FISH. Two out of two mothers of KS patients and one out of 20 controls were found to have a heterozygous submicroscopic inversion at 8p23.1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder.
J M Milunsky; X L Huang
Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  64     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2004-02-27     Completed Date:  2004-07-20     Revised Date:  2008-06-03    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  509-16     Citation Subset:  IM    
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Chromosome Aberrations*
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 8 / genetics*
Cytogenetic Analysis
In Situ Hybridization, Fluorescence
Mental Retardation / genetics*
Nucleic Acid Hybridization
Comment In:
Clin Genet. 2008 May;73(5):502-3   [PMID:  18336587 ]

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

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