Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata.
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.
Bisgaard
Anne-Marie
AM
Department of Clinical Genetics, Rigshospitalet, Copenhagen Departments of Paediatrics Ophthalmology, Viborg Hospital, Viborg, Denmark.
Rasmussen
Leif Normann
LN
Møller
Hans Ulrik
HU
Kirchhoff
Maria
M
Bryndorf
Thue
T
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