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Human Molecular Genetics, Vol 6, 1657-1665, Copyright © 1997 by Oxford University Press

REVIEWS

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

ML Budarf and BS Emanuel
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA. budarf@cbil.humgen.upenn.edu

Based on cytogenetic observations, several syndromes have been previously identified as microdeletion-based disorders. In this review, recent progress is presented regarding whether one or multiple genes can be implicated in the pathogenesis of these segmentally aneusomic syndromes. The syndromes discussed include Angelman, Alagille, Williams, Langer-Giedeon, Prader-Willi, Smith-Magenis, Miller-Dieker, and DiGeorge/velocardiofacial or the 22q11 deletion syndromes. For Angelman and Alagille syndromes, single genes have been identified, whereas for Williams and Langer-Giedion syndromes, more than one gene can be implicated. Although there has been significant progress in dissecting the molecular basis for the other disorders, the ultimate answer regarding one versus several genes remains to be determined.
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