Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.
Bisgaard
Anne-Marie
AM
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. anne-marie.bisgaard.pedersen@rh.hosp.dk
Rackauskaite
Gija
G
Thelle
Thomas
T
Kirchhoff
Maria
M
Bryndorf
Thue
T
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D015894:Genome, Human; D006319:Hearing Loss, Sensorineural / Q000473:pathology; D006801:Humans; D006956:Hyperopia / Q000473:pathology; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D009693:Nucleic Acid Hybridization / Q000379:methods