PMID: 15479613Oct 14, 2004Paper

Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes

Journal of Biochemistry and Molecular Biology
Daniel BorelinaIrene Szijan

Abstract

Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infants; thus, a suitable molecular test capable of revealing chromosomal abnormalities is required. We used a variety of cytogenetic and molecular approaches, such as, chromosome G banding, fluorescent in situ hybridization, a DNA methylation test, and a set of chromosome 15 DNA polymorphisms to characterize a cohort of 27 PWS patients and 24 suspected AS patients. Molecular analysis enabled the reliable diagnosis of 14 PWS and 7 AS patients, and their classification into four groups: (A) 6 of these 14 PWS subjects (44 %) had deletions of paternal 15q11-q13; (B) 4 of the 7 AS patients had deletions of maternal 15q11-q13; (C) one PWS patient (8 %) had a maternal uniparental disomy (UPD) of chromosome 15; (D) the remaining reliably diagnoses of 7 PWS and 3 AS cases showed abnormal methylation patterns of 15q11-q13 chromosome, but none of the alterations shown by the above groups, although they may have harbored deletions undetected by the markers used. This study highli...Continue Reading

References

Mar 26, 1976·Science·J J Yunis
Jan 1, 1991·American Journal of Perinatology·J A Kuller, S A Laifer
Mar 27, 1995·American Journal of Medical Genetics·C A WilliamsE M Whidden
Jun 5, 1998·Trends in Genetics : TIG·R D NichollsB Horsthemke

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Citations

Oct 20, 2007·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Hongyi LiXinming Song
Mar 4, 2014·The Journal of Pediatrics·Beyhan TuysuzNihan Erginel-Unaltuna

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