Periventricular nodular heterotopia and Williams syndrome.

doi:10.1002/ajmg.a.31259

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Article

Periventricular nodular heterotopia and Williams syndrome.

American journal of medical genetics. Part A - 15 Jun 2006

Ferland Russell J, Gaitanis John N, Apse Kira, Tantravahi Umadevi, Walsh Christopher A, Sheen Volney L

Abstract excerpt

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...

Topics

Cerebral Ventricles
Cerebral Ventriculography
Child
Chromosomes, Human, Pair 7
Contractile Proteins
Elastin
Female
Filamins
Gene Deletion
Genes, X-Linked
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Karyotyping

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Heterozygosity

Microfilament Proteins

Microsatellite Repeats

Mutation

Source

Open in PubMed

Identifiers

PMID: 16691586
DOI: 10.1002/ajmg.a.31259

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