Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

• Published in: American journal of medical genetics. Part A Vol. 139A; no. 2; pp. 106 - 113
• Main Authors: Sahoo, Trilochan, Shaw, Chad A., Young, Andrew S., Whitehouse, Nathan L., Schroer, Richard J., Stevenson, Roger E., Beaudet, Arthur L.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2005
• Subjects: Angelman syndrome; autism; chromosome 15; Chromosome Aberrations; Chromosomes, Artificial, Bacterial; Chromosomes, Human, Pair 15; comparative genomic hybridization; Female; Humans; In Situ Hybridization, Fluorescence; isodicentric 15; Male; Nucleic Acid Hybridization - methods; Prader-Willi syndrome

Genomic rearrangements of chromosome 15q11‐q13 cause diverse phenotypes including autism, Prader–Willi syndrome (PWS), and Angelman syndrome (AS). This region is subject to genomic imprinting and characterized by complex combinations of low copy repeat elements. Prader–Willi and Angelman syndrome ar...