PURPOSE: To further assess the frequency of subtelomeric aberrations in a selected population and to examine the feasibility of a clinical testing. METHODS: Patients were selected based on the following criteria: (1) mental retardation (IQ < 70) or developmental delay with dysmorphic features; (2) a normal karyotype at the level of resolution of 450 to 500 bands; and (3) exclusion of other possible etiologies by a full genetic assessment and relevant tests. Fluorescence in situ hybridization (FISH) was performed using multiple subtelomeric probes. Abnormal findings were confirmed by 24-color spectral karyotyping or FISH with a specific subtelomeric probe, and family studies were carried out to determine inheritance. RESULTS: Clinically significant aberrations were detected in 6 of 150 proband patients (4%), while deletion of the 2q subtelomeric region appeared to be a common variant (6%). CONCLUSIONS: FISH with multiple subtelomeric probes is a valuable clinical test for establishing a definitive diagnosis for patients with unexplained mental retardation/developmental disorders.
PURPOSE: To further assess the frequency of subtelomeric aberrations in a selected population and to examine the feasibility of a clinical testing. METHODS: Patients were selected based on the following criteria: (1) mental retardation (IQ < 70) or developmental delay with dysmorphic features; (2) a normal karyotype at the level of resolution of 450 to 500 bands; and (3) exclusion of other possible etiologies by a full genetic assessment and relevant tests. Fluorescence in situ hybridization (FISH) was performed using multiple subtelomeric probes. Abnormal findings were confirmed by 24-color spectral karyotyping or FISH with a specific subtelomeric probe, and family studies were carried out to determine inheritance. RESULTS: Clinically significant aberrations were detected in 6 of 150 proband patients (4%), while deletion of the 2q subtelomeric region appeared to be a common variant (6%). CONCLUSIONS: FISH with multiple subtelomeric probes is a valuable clinical test for establishing a definitive diagnosis for patients with unexplained mental retardation/developmental disorders.
Authors: J Bogdanowicz; B Pawłowska; A Ilnicka; S Gawlik-Zawiślak; A Jóźwiak; B Sobiczewska; E Zdzienicka; L Korniszewski; J Zaremba Journal: J Appl Genet Date: 2010 Impact factor: 3.240
Authors: Gopalrao V N Velagaleti; Sally S Robinson; Bobby M Rouse; Vijay S Tonk; Lillian H Lockhart Journal: Indian J Pediatr Date: 2005-08 Impact factor: 1.967
Authors: Ben S Pickard; Edward J Hollox; M Pat Malloy; David J Porteous; Douglas H R Blackwood; John A L Armour; Walter J Muir Journal: BMC Med Genet Date: 2004-08-13 Impact factor: 2.103