title: Primary ovarian failure and deletions of the long arm of chromosome 3.
abstract: A 14 year-old girl was found to have a deletion of the distal segment of chromosome 3 [46,XX,Del(3)(q28-29)]. The main features of this presentation were mild intellectual disability, facial dysmorphism, short stature, kypho-scoliosis, and primary ovarian failure, an association that has not been described before in association with chromosome 3 deletion. The phenotype and presentation are compared with those of previous case reports.
authors.affiliation: Department ofPaediatrics, University of Melbourne, Australia.
authors.forename: ThiThuyAn
authors.initials: T
authors.lastname: Nguyen
authors.forename: Ciara M
authors.initials: CM
authors.lastname: McDonnell
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Zacharin
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics* / Q000473:pathology; D012600:Scoliosis / Q000235:genetics / Q000473:pathology; D013577:Syndrome