Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

Yao-Shan Fan, Yang Zhang, Marsha Speevak, Sandra Farrell, Jack H. Jung, Victoria M. Siu

Research output: Contribution to journalArticle

54 Citations (Scopus)

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 languageEnglish
Pages (from-to)416-421
Number of pages6
JournalGenetics in Medicine
Volume3
Issue number6
StatePublished - Dec 1 2001
Externally publishedYes

Fingerprint

Fluorescence In Situ Hybridization
Intellectual Disability
Spectral Karyotyping
Karyotype
Color
Population

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 journalArticle

Fan, Yao-Shan ; Zhang, Yang ; Speevak, Marsha ; Farrell, Sandra ; Jung, Jack H. ; Siu, Victoria M. / Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. In: Genetics in Medicine. 2001 ; Vol. 3, No. 6. pp. 416-421.
@article{d390e4649b464f76ae1052d18b3c4187,
title = "Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes",
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.",
keywords = "Cryptic rearrangement, Developmental delay, Fluorescence in situ hybridization, Mental retardation, Multiple subtelomeric probes, Spectral karyotyping, Subtelomeric aberrations",
author = "Yao-Shan Fan and Yang Zhang and Marsha Speevak and Sandra Farrell and Jung, {Jack H.} and Siu, {Victoria M.}",
year = "2001",
month = "12",
day = "1",
language = "English",
volume = "3",
pages = "416--421",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

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

UR - http://www.scopus.com/inward/record.url?scp=0035746692&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035746692&partnerID=8YFLogxK

M3 - Article

VL - 3

SP - 416

EP - 421

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 6

ER -