title: Chromosome 10qter deletion syndrome: a review and report of three new cases.
abstract: We report on three patients with terminal deletions of chromosome 10q and compare them to 15 previously reported patients. A similar facial appearance with a prominent beaked nose, large and/or malformed ears, and a pattern of major abnormalities including severe mental retardation, cardiac anomalies, and anogenital anomalies are reviewed. We feel the manifestations of del 10qter are sufficiently distinct to suggest this diagnosis on clinical examination.
authors.affiliation: Medical Genetics, Naval Hospital, San Diego, California.
authors.forename: E A
authors.initials: EA
authors.lastname: Wulfsberg
authors.forename: R P
authors.initials: RP
authors.lastname: Weaver
authors.forename: C M
authors.initials: CM
authors.lastname: Cunniff
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
authors.forename: K L
authors.initials: KL
authors.lastname: Jones
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype