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Microdeletion and microduplication syndromes
Author(s) -
Malcolm Sue
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199612)16:13<1213::aid-pd96>3.0.co;2-c
Subject(s) - angelman syndrome , microdeletion syndrome , medicine , cytogenetics , gene duplication , prenatal diagnosis , bioinformatics , genetics , pediatrics , phenotype , biology , gene , pregnancy , chromosome , fetus
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 22q11 deletion syndromes. © 1996 John Wiley & Sons, Ltd.