Microdeletion and microduplication syndromes

✍ Scribed by Sue Malcolm

• Book ID: 102650205
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 679 KB
• Volume: 16
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199612)16:13<1213::aid-pd96>3.0.co;2-c

✦ Synopsis

Microdeletions or microduplications have been shown to be associated with a number of important clinical conditions. In most cases no single gene within the segment has been identified as giving rise to the phenotype. The chromosomal rearrangements are generally too small to be identified reliably by standard cytogenetics, but a combination of FISH and molecular methods may be used. This review discusses the application of current knowledge to the prenatal diagnosis of the most common of these conditions i.e. Prader-Willi syndrome, Angelman syndrome, hereditary motor and sensory neuropathy type 1 and 22qll deletion syndromes.