Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome

• Published in: American journal of medical genetics. Part A Vol. 146A; no. 7; pp. 854 - 860
• Main Authors: Butler, Merlin G., Fischer, William, Kibiryeva, Nataliya, Bittel, Douglas C.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2008; Wiley-Liss
• Subjects: Adolescent; Adult; array comparative genomic hybridization (aCGH); Biological and medical sciences; chromosomal breakpoint; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 15; Complex syndromes; copy number variation (CNV); Female; Humans; In Situ Hybridization, Fluorescence; Male; Medical genetics; Medical sciences; Metabolic diseases; Nucleic Acid Hybridization; Obesity; Prader-Willi syndrome (PWS); Prader-Willi Syndrome - genetics; type I and II deletions; Chromosomal aberration; Endocrinopathy; Breakpoint; array comparative genomic hybridization (aCGH); Copy number; Diseases of the osteoarticular system; Variations; Genetic disease; chromosomal breakpoint; Chromosome break; Comparative genomic hybridization; Deletion; copy number variation (CNV); type I and II deletions; Complex syndrome; Prader Labhart Willi syndrome; Prader-Willi syndrome (PWS)

Prader–Willi syndrome (PWS) is due to loss of paternally expressed genes in the 15q11–q13 region generally from a paternal 15q11–q13 deletion. The proximal deletion breakpoint in the 15q11–q13 region occurs at one of two sites located within either of two large duplicons allowing for identification...