title: Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?
abstract: 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.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA. budarf@cbil.humgen.upenn.edu
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D002892:Chromosomes, Human, Pair 22; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D013577:Syndrome
chemical_list: D005819:Genetic Markers