title: Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
abstract: Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.
authors: Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. tulaytos@hotmail.com
authors: T
authors: T
authors: Tos
authors: Department of Pediatric Neurology, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors: S
authors: S
authors: Vurucu
authors: Department of Medical Genetics, Sakarya University Education and Research Hospital, Sakarya, Turkey.
authors: M
authors: M
authors: Karkucak
authors: Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors: S
authors: S
authors: Kozan
authors: Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors: D
authors: D
authors: Gul
authors: Department of Pediatric Neurology, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors: R
authors: R
authors: Akin
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007621:Karyotyping / Q000379:methods; D008297:Male; D009006:Monosomy / Q000235:genetics*; D016615:Telomere / Q000235:genetics; D014421:Turkey