PMID- 16353282
OWN - NLM
STAT- MEDLINE
DCOM- 20070412
LR  - 20071203
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 25
IP  - 13
DP  - 2005 Dec
TI  - Prenatal diagnosis of PLP1 copy number by array comparative genomic 
      hybridization.
PG  - 1188-91
AB  - OBJECTIVES: To report a family with a history of Pelizaeus-Merzbacher disease 
      (PMD) for which prenatal diagnosis of PLP1 gene duplication status was attempted 
      by the use of custom array comparative genomic hybridization (aCGH). METHODS: A 
      28-year-old woman was referred for genetic counseling for her then current 
      pregnancy because her existing 3-year-old son was diagnosed with a classic form 
      of PMD. At 11 and 3/7 weeks gestation, chorionic villus sampling (CVS) was 
      performed. Custom aCGH and fluorescence in situ hybridization (FISH) analyses 
      were also performed on the DNA from family members. Fetal karyotyping revealed 
      46,XY. RESULTS: Analysis by aCGH revealed that the male fetus was not duplicated 
      for the PLP1 gene, but confirmed a duplicated PLP1 gene in the 3-year-old son, 
      and that the mother was a duplication carrier. These results were independently 
      confirmed by FISH analysis. aCGH and FISH analyses on DNA and cells derived from 
      cord blood confirmed PLP1 nonduplication in the newborn. CONCLUSION: aCGH is a 
      reliable alternative method for detection of PLP1 copy number for prenatal 
      diagnosis of Pelizaeus-Merzbacher disease.
CI  - Copyright 2005 John Wiley & Sons, Ltd.
FAU - Lee, Jennifer A
AU  - Lee JA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA.
FAU - Cheung, Sau W
AU  - Cheung SW
FAU - Ward, Patricia A
AU  - Ward PA
FAU - Inoue, Ken
AU  - Inoue K
FAU - Lupski, James R
AU  - Lupski JR
LA  - eng
GR  - P01 HD38420/HD/NICHD NIH HHS/United States
GR  - R01 NS27042/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Membrane Proteins)
RN  - 0 (Myelin Proteolipid Protein)
RN  - 0 (PLP1 protein, human)
SB  - IM
MH  - Adult
MH  - Child, Preschool
MH  - Female
MH  - Fetus
MH  - *Gene Duplication
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant, Newborn
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Myelin Proteolipid Protein/*genetics
MH  - Oligonucleotide Array Sequence Analysis/methods
MH  - Pelizaeus-Merzbacher Disease/*diagnosis/*genetics
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2005/12/15 09:00
MHDA- 2007/04/14 09:00
CRDT- 2005/12/15 09:00
PHST- 2005/12/15 09:00 [pubmed]
PHST- 2007/04/14 09:00 [medline]
PHST- 2005/12/15 09:00 [entrez]
AID - 10.1002/pd.1308 [doi]
PST - ppublish
SO  - Prenat Diagn. 2005 Dec;25(13):1188-91. doi: 10.1002/pd.1308.