PMID- 7573140
OWN - NLM
STAT- MEDLINE
DCOM- 19951103
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 57
IP  - 4
DP  - 1995 Jul 17
TI  - Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: 
      fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
PG  - 615-9
AB  - Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods 
      of Southern blotting and DNA amplification, with carrier identification requiring 
      time-consuming and unreliable dosage calculations. In this report, we describe 
      rapid molecular cytogenetic identification of deleted DNA in affected males with 
      the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and 
      female carriers for this disorder. CGKD deletions involve the genes for glycerol 
      kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We 
      report an improved method for diagnosis of deletions in individuals with CGKD and 
      for identification of female carriers within their families, using fluorescence 
      in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol 
      kinase gene. When used in combination with an Xq control probe, affected males 
      demonstrate a single signal from the control probe, while female carriers 
      demonstrate a normal chromosome with two signals, as well as a deleted chromosome 
      with a single signal from the control probe. FISH analysis for CGKD provides the 
      advantages of speed and accuracy for evaluation of submicroscopic X-chromosomal 
      deletions, particularly in identification of female carriers. In addition to 
      improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more 
      readily available.
FAU - Worley, K C
AU  - Worley KC
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Lindsay, E A
AU  - Lindsay EA
FAU - Bailey, W
AU  - Bailey W
FAU - Wise, J
AU  - Wise J
FAU - McCabe, E R
AU  - McCabe ER
FAU - Baldini, A
AU  - Baldini A
LA  - eng
GR  - 3 R01-HD22563/HD/NICHD NIH HHS/United States
GR  - 5 P30 HD24064/HD/NICHD NIH HHS/United States
GR  - 5 P30HD27832/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - EC 2.7.1.30 (Glycerol Kinase)
SB  - IM
MH  - Chromosome Mapping
MH  - Female
MH  - *Gene Deletion
MH  - Glycerol Kinase/*deficiency/genetics
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Pedigree
MH  - *X Chromosome
EDAT- 1995/07/17 00:00
MHDA- 1995/07/17 00:01
CRDT- 1995/07/17 00:00
PHST- 1995/07/17 00:00 [pubmed]
PHST- 1995/07/17 00:01 [medline]
PHST- 1995/07/17 00:00 [entrez]
AID - 10.1002/ajmg.1320570420 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Jul 17;57(4):615-9. doi: 10.1002/ajmg.1320570420.