SALSA MS-MLPA probemix ME028-B2 Prader-Willi/Angelman
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چکیده
PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are distinct neurogenetic disorders, both usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy. The chromosomal alterations result in an aberrant expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11, due to chromosomal deletion or uniparental disomy, results in PWS. The absence of the maternal copy of the same region causes AS.
منابع مشابه
Genetic testing in Indian patients with Prader-Willi syndrome using methylation specific multiplex ligation dependent probe amplification (MS-MLPA)
Prader-Willi syndrome (PWS) is caused by loss of function of genes on chromosome 15; most cases occur when a segment of the paternal chromosome 15 is absent/inactivated. Recently few cases have been identified with truncating mutations in MAGEL2 gene (Chromosome 15). We present clinical features and molecular genetic analysis on 6 patients with features of PWS using MS-MLPA. Four boys and 2 gir...
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متن کاملMolecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
BACKGROUND Approximately 99% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11.2-q13, uniparental disomy for chromosome 15 (UPD15), or imprinting center defects affecting gene expression in this region. The resulting clinical phenotype (PWS or AS) in each class of genomic abnormalities depends on the parent of origin. Bo...
متن کاملDetection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Two common classes of deletions are described in the literature in individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3 of the PWS/AS critical region on chromosome 15q11-->q13. We present here a novel observation of an approximately 253-kb deletion between BP1 and BP2 on 15q11.2, in a 3(1/2)-year-old boy, who was referr...
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تاریخ انتشار 2016