title: Evidence for a new microdeletion syndrome in 15q21.
abstract: We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.
authors.affiliation: Institut für Humangenetik und Anthropologie, Postfach, D-07740 Jena, Germany. i8lith@mti-n.mti.uni-jena.de
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: H
authors.initials: H
authors.lastname: Starke
authors.forename: A
authors.initials: A
authors.lastname: Heller
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: V
authors.initials: V
authors.lastname: Beensen
authors.forename: G
authors.initials: G
authors.lastname: Senger
authors.forename: G
authors.initials: G
authors.lastname: Kittner
authors.forename: M
authors.initials: M
authors.lastname: Prechtel
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: J
authors.initials: J
authors.lastname: Seidel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome