Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)

Girirajan, S., Mendoza-Londono, R., Vlangos, C. N., Dupuis, L., Nowak, N. J., Bunyan, D. J., Hatchwell, E., Elsea, S. H. (May 2007) Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). American Journal of Medical Genetics Part A, 143A (9). pp. 999-1008. ISSN 1552-4825

URL: https://www.ncbi.nlm.nih.gov/pubmed/17431895
DOI: 10.1002/ajmg.a.31689

Abstract

Chromosomal rearrangements causing microdeletions and microduplications are a major cause of congenital malformation and mental retardation. Because they are not visible by routine chromosome analysis, high resolution whole-genome technologies are required for the detection and diagnosis of small chromosomal abnormalities. Recently, array-comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) have been useful tools for the identification and mapping of deletions and duplications at higher resolution and throughput. Smith-Magenis syndrome (SMS) isa multiple congenital anomalies/mental retardation syndrome caused by deletion or mutation of the retinoic acid induced 1 (RAI1) gene and is often associated with a chromosome 17p11.2 deletion. We report here on the clinical and molecular analysis of a 10-year-old girl with SMS and moyamoya disease (occlusion of the circle of Willis). We have employed a combination of aCGH, FISH, and MLPA to characterize an similar to 6.3 Mb deletion spanning chromosome region 17p11.2-p13.1 in this patient, with the proximal breakpoint within the RAI1 gene. Further, investigation of the genomic architecture at the breakpoint intervals of this large deletion documented the presence of palindromic repeat elements that could potentially form recombination substrates leading to unequal crossover. (C) 2007 Wiley-I.iss, Inc.

Item Type: Paper
Uncontrolled Keywords: Smith-Magenis syndrome MLPA array-CGH 17p11.2 deletion moyamoya cerebrovascular abnormalities COMPARATIVE GENOMIC HYBRIDIZATION HIGH-RESOLUTION ANALYSIS COPY-NUMBER VARIATION AT-RICH PALINDROMES MENTAL-RETARDATION 17P11.2 DELETIONS GENE MLPA REARRANGEMENTS FEATURES
Subjects: diseases & disorders > mental disorders
diseases & disorders > congenital hereditary genetic diseases > Smith Magenis syndrome
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomal deletions
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomal duplications
diseases & disorders > mental disorders > genetic disorders
CSHL Authors:
Communities: CSHL labs
Depositing User: CSHL Librarian
Date: May 2007
Date Deposited: 15 Nov 2011 20:09
Last Modified: 27 Mar 2018 16:17
Related URLs:
URI: http://repository.cshl.edu/id/eprint/23020

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