PMID- 10766989
OWN - NLM
STAT- MEDLINE
DCOM- 20000608
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 4
DP  - 2000 Apr 10
TI  - Dual-probe fluorescence in situ hybridization assay for detecting deletions 
      associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
PG  - 313-7
AB  - Over 90% of patients with DiGeorge syndrome (DGS) or velocardiofacial syndrome 
      (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult 
      to visualize at the light microscopic level, fluorescence in situ hybridization 
      (FISH) has been instrumental in the diagnosis of this disorder. Deletions on the 
      short arm of chromosome 10 are also associated with a DGS-like phenotype. Since 
      deletions at 22q11.2 and at 10p13p14 result in similar findings, we have 
      developed a dual-probe FISH assay for screening samples referred for DGS or VCFS 
      in the clinical laboratory. This assay includes two test probes for the loci, 
      DGSI at 22q11.2 and DGSII at 10p13p14, and centromeric probes for chromosomes 10 
      and 22. Of 412 patients tested, 54 were found to be deleted for the DGSI locus on 
      chromosome 22 (13%), and a single patient was found deleted for the DGSII locus 
      on chromosome 10 (0. 24%). The patient with the 10p deletion had facial features 
      consistent with VCFS, plus sensorineural hearing loss, and renal anomalies. 
      Cytogenetic analysis showed a large deletion of 10p [46, XX,del(10)(p12.2p14)] 
      and FISH using a 10p telomere region-specific probe confirmed the interstitial 
      nature of the deletion. Analysis for the DGSI and the DGSII loci suggests that 
      the deletion of the DGSII locus on chromosome 10 may be 50 times less frequent 
      than the deletion of DGSI on chromosome 22. The incidence of deletions at 22q11.2 
      has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 
      may be estimated to occur in 1 in 200,000 live births.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Berend, S A
AU  - Berend SA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA. sberend@bcm.tmc.edu
FAU - Spikes, A S
AU  - Spikes AS
FAU - Kashork, C D
AU  - Kashork CD
FAU - Wu, J M
AU  - Wu JM
FAU - Daw, S C
AU  - Daw SC
FAU - Scambler, P J
AU  - Scambler PJ
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 10/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Coronary Vessel Anomalies/diagnosis/genetics
MH  - Craniofacial Abnormalities/diagnosis/*genetics
MH  - DiGeorge Syndrome/diagnosis/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Kidney/abnormalities
MH  - Male
MH  - Retrospective Studies
MH  - Syndrome
EDAT- 2000/04/15 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/04/15 09:00
PHST- 2000/04/15 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/04/15 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000410)91:4<313::AID-AJMG13>3.0.CO;2-U [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Apr 10;91(4):313-7.