|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
12
|
|
pubmed:dateCreated |
2006-5-31
|
|
pubmed:abstractText |
We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1552-4825
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright 2006 Wiley-Liss, Inc.
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
15
|
|
pubmed:volume |
140
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1305-11
|
|
pubmed:dateRevised |
2008-9-1
|
|
pubmed:meshHeading |
pubmed-meshheading:16691586-Cerebral Ventricles,
pubmed-meshheading:16691586-Cerebral Ventriculography,
pubmed-meshheading:16691586-Child,
pubmed-meshheading:16691586-Chromosomes, Human, Pair 7,
pubmed-meshheading:16691586-Contractile Proteins,
pubmed-meshheading:16691586-Elastin,
pubmed-meshheading:16691586-Female,
pubmed-meshheading:16691586-Gene Deletion,
pubmed-meshheading:16691586-Genes, X-Linked,
pubmed-meshheading:16691586-Genetic Markers,
pubmed-meshheading:16691586-Humans,
pubmed-meshheading:16691586-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16691586-Karyotyping,
pubmed-meshheading:16691586-Loss of Heterozygosity,
pubmed-meshheading:16691586-Microfilament Proteins,
pubmed-meshheading:16691586-Microsatellite Repeats,
pubmed-meshheading:16691586-Mutation,
pubmed-meshheading:16691586-Physical Chromosome Mapping,
pubmed-meshheading:16691586-Polymorphism, Single Nucleotide,
pubmed-meshheading:16691586-Sequence Analysis, DNA,
pubmed-meshheading:16691586-Syndrome,
pubmed-meshheading:16691586-Williams Syndrome
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
Periventricular nodular heterotopia and Williams syndrome.
|
|
pubmed:affiliation |
Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
