PMID- 11715006
OWN - NLM
STAT- MEDLINE
DCOM- 20020325
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 3
IP  - 6
DP  - 2001 Nov-Dec
TI  - Detection of submicroscopic aberrations in patients with unexplained mental 
      retardation by fluorescence in situ hybridization using multiple subtelomeric 
      probes.
PG  - 416-21
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.
FAU - Fan, Y S
AU  - Fan YS
AD  - London Health Sciences Centre and the University of Western Ontario, London, 
      Canada.
FAU - Zhang, Y
AU  - Zhang Y
FAU - Speevak, M
AU  - Speevak M
FAU - Farrell, S
AU  - Farrell S
FAU - Jung, J H
AU  - Jung JH
FAU - Siu, V M
AU  - Siu VM
LA  - eng
PT  - Case Reports
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Painting
MH  - DNA Probes
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Intellectual Disability/*diagnosis/genetics
MH  - Karyotyping/*methods
MH  - Microscopy
MH  - Pedigree
MH  - Phenotype
MH  - Telomere/*ultrastructure
MH  - Translocation, Genetic
MH  - Trisomy
EDAT- 2001/11/21 10:00
MHDA- 2002/03/26 10:01
CRDT- 2001/11/21 10:00
PHST- 2001/11/21 10:00 [pubmed]
PHST- 2002/03/26 10:01 [medline]
PHST- 2001/11/21 10:00 [entrez]
AID - S1098-3600(21)02817-3 [pii]
AID - 10.1097/00125817-200111000-00007 [doi]
PST - ppublish
SO  - Genet Med. 2001 Nov-Dec;3(6):416-21. doi: 10.1097/00125817-200111000-00007.