title: Terminal deletion of the short arm of chromosome 3.
abstract: A boy with growth and mental retardation, flat occiput, high and broad forehead, blepharoptosis, narrow palpebral fissures, low set, malformed ears, short neck, anal atresia, deep sacral dimple is reported. High-resolution banding analysis showed terminal deletion of the short arm of chromosome 3 (46,XY,del(3)(p25.3)). Deletions of the short arm of chromosome 3 are relatively rare. The clinical features of the patient are compared with those of 19 previously reported cases.
authors.affiliation: Department of Pediatrics, Yokkaichi Municipal Hospital, Mie, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Asai
authors.forename: Y
authors.initials: Y
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Iguchi
authors.forename: J
authors.initials: J
authors.lastname: Ito
authors.forename: N
authors.initials: N
authors.lastname: Okada
authors.forename: H
authors.initials: H
authors.lastname: Oishi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male