Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 416-421 |
| Number of pages | 6 |
| Journal | Genetics in Medicine |
| Volume | 3 |
| Issue number | 6 |
| State | Published - Dec 1 2001 |
| Externally published | Yes |
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Keywords
- Cryptic rearrangement
- Developmental delay
- Fluorescence in situ hybridization
- Mental retardation
- Multiple subtelomeric probes
- Spectral karyotyping
- Subtelomeric aberrations
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. / Fan, Yao-Shan; Zhang, Yang; Speevak, Marsha; Farrell, Sandra; Jung, Jack H.; Siu, Victoria M.
In: Genetics in Medicine, Vol. 3, No. 6, 01.12.2001, p. 416-421.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
AU - Fan, Yao-Shan
AU - Zhang, Yang
AU - Speevak, Marsha
AU - Farrell, Sandra
AU - Jung, Jack H.
AU - Siu, Victoria M.
PY - 2001/12/1
Y1 - 2001/12/1
N2 - 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.
AB - 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.
KW - Cryptic rearrangement
KW - Developmental delay
KW - Fluorescence in situ hybridization
KW - Mental retardation
KW - Multiple subtelomeric probes
KW - Spectral karyotyping
KW - Subtelomeric aberrations
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M3 - Article
VL - 3
SP - 416
EP - 421
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 6
ER -