title: Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata.
abstract: Interstitial deletions on the short arm of chromosome 1 are rare. We describe a girl with severe mental retardation, short stature and dysmorphic features including colobomata where high-resolution comparative genomic hybridization revealed an interstitial deletion with breakpoints in band 1p13.1 and 1p21.1. The deletion was further characterized by real-time polymerase chain reaction. We hypothesize that haploinsufficiency of WNT2B (wingless-type MMTV integration site family, member 2B) and NTNG1 (Netrin G1) contributed to the patient's phenotype.
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, Copenhagen Departments of Paediatrics Ophthalmology, Viborg Hospital, Viborg, Denmark.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: Leif Normann
authors.initials: LN
authors.lastname: Rasmussen
authors.forename: Hans Ulrik
authors.initials: HU
authors.lastname: Møller
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Thue
authors.initials: T
authors.lastname: Bryndorf
mesh_terms: D000293:Adolescent; D001827:Body Height; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003103:Coloboma / Q000150:complications* / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D009693:Nucleic Acid Hybridization