| Periventricular nodular heterotopia and Williams syndrome. | |
| | |
MedLine Citation:
|
PMID: 16691586 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Russell J Ferland; John N Gaitanis; Kira Apse; Umadevi Tantravahi; Christopher A Walsh; Volney L Sheen |
Related Documents
:
|
10851256 - Tietz syndrome (hypopigmentation/deafness) caused by mutation of mitf. 20980806 - New insights into 5q- syndrome as a ribosomopathy. 16814186 - Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular anal... 20860806 - Novel association of severe neonatal encephalopathy and hirschsprung disease in a male ... 21633546 - Apical ballooning syndrome after attempted suicidal hanging. 20960156 - A 47, xxy patient and xq21.31 duplication with features of prader-willi syndrome: resul... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 140 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Jun |
Date Detail:
|
Created Date: 2006-05-31 Completed Date: 2006-08-28 Revised Date: 2012-05-18 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 1305-11 Citation Subset: IM |
Copyright Information:
|
Copyright 2006 Wiley-Liss, Inc. |
Affiliation:
|
Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Cerebral Ventricles
/
pathology* Cerebral Ventriculography Child Chromosomes, Human, Pair 7 Contractile Proteins / genetics* Elastin / genetics Female Gene Deletion Genes, X-Linked Genetic Markers Humans In Situ Hybridization, Fluorescence Karyotyping Loss of Heterozygosity Microfilament Proteins / genetics* Microsatellite Repeats / genetics Mutation Physical Chromosome Mapping Polymorphism, Single Nucleotide Sequence Analysis, DNA Syndrome Williams Syndrome / genetics* |
| Grant Support | |
ID/Acronym/Agency:
|
1K01MH71801-01A1/MH/NIMH NIH HHS; 1K08MH/NS63886/MH/NIMH NIH HHS; K01 MH071801-05/MH/NIMH NIH HHS; K08 MH063886/MH/NIMH NIH HHS; R37 NS35129/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Contractile Proteins; 0/Genetic Markers; 0/Microfilament Proteins; 0/filamins; 9007-58-3/Elastin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.
Next Document: Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype corre...