PMID- 12544473
OWN - NLM
STAT- MEDLINE
DCOM- 20030801
LR  - 20220318
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 5
IP  - 1
DP  - 2003 Jan-Feb
TI  - Utility of subtelomeric fluorescent DNA probes for detection of chromosome 
      anomalies in 425 patients.
PG  - 28-34
AB  - PURPOSE: A complete set of subtelomeric fluorescent DNA probes, except the 
      acrocentric p-arms, was developed in 1996, was optimized in 1998, and is 
      commercially available. These and other fluorescence in situ hybridization (FISH) 
      probes have been used to detect anomalies of the subtelomere regions among groups 
      of patients with idiopathic mental retardation (MR), developmental delay (DD), 
      and/or nonspecific dysmorphic features (NDF), and individuals with multiple 
      miscarriages (MM) who were karyotypically normal by standard G-banding 
      techniques. METHODS: A total of 425 patients were analyzed, of whom 372 had 
      idiopathic MR/DD/NDF and 53 were involved in MM. An effort was made to select 
      individuals for this study who were either normal karyotypically or who had 
      subtle chromosomal anomalies that were inconclusive by banded chromosome 
      analysis, although this was not always possible. RESULTS: Anomalies involving the 
      subtelomere regions were detected at a frequency of 6.8% in the MR/DD/NDF group. 
      The cryptic or subtle anomalies are estimated to be about 3.4%. It was necessary 
      to use M-FISH, chromosome, and locus specific FISH probes to clarify some of the 
      abnormalities. No abnormalities were detected in the MM group. Deletion variants 
      were present for 2qter, 7pter, and Xpter/Ypter subtelomeric regions ranging from 
      <1 to 9.6%. CONCLUSIONS: The subtelomeric FISH probes are instrumental in the 
      detection of subtelomeric anomalies in a significant proportion, although no more 
      than 50% are subtle, of patients with idiopathic MR/DD/NDF. In some cases, 
      however, it was necessary to use other FISH probes to clarify the nature of these 
      abnormalities. No subtelomeric abnormalities were detected in our group of 53 MM 
      patients, suggesting a relatively low frequency of occurrence in this patient 
      population.
FAU - Jalal, Syed M
AU  - Jalal SM
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, 
      Rochester, Minnesota 55905, USA.
FAU - Harwood, Aaron R
AU  - Harwood AR
FAU - Sekhon, Gurbax S
AU  - Sekhon GS
FAU - Pham Lorentz, Cindy
AU  - Pham Lorentz C
FAU - Ketterling, Rhett P
AU  - Ketterling RP
FAU - Babovic-Vuksanovic, Dusica
AU  - Babovic-Vuksanovic D
FAU - Meyer, Reid G
AU  - Meyer RG
FAU - Ensenauer, Regina
AU  - Ensenauer R
FAU - Anderson, Marvin H Jr
AU  - Anderson MH Jr
FAU - Michels, Virginia V
AU  - Michels VV
LA  - eng
PT  - Journal Article
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  - Abortion, Habitual/*genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *DNA Probes
MH  - Developmental Disabilities/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant, Newborn
MH  - Intellectual Disability/epidemiology/*genetics
MH  - Male
MH  - Telomere/genetics/*ultrastructure
EDAT- 2003/01/25 04:00
MHDA- 2003/08/02 05:00
CRDT- 2003/01/25 04:00
PHST- 2003/01/25 04:00 [pubmed]
PHST- 2003/08/02 05:00 [medline]
PHST- 2003/01/25 04:00 [entrez]
AID - S1098-3600(21)03320-7 [pii]
AID - 10.1097/00125817-200301000-00005 [doi]
PST - ppublish
SO  - Genet Med. 2003 Jan-Feb;5(1):28-34. doi: 10.1097/00125817-200301000-00005.