PMID- 10842297
OWN - NLM
STAT- MEDLINE
DCOM- 20000712
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 92
IP  - 4
DP  - 2000 Jun 5
TI  - Comparative genomic hybridization: a new approach to screening for intrauterine 
      complete or mosaic aneuploidy.
PG  - 281-4
AB  - In the practice of clinical genetics chromosomal aneuploidy in both mosaic and 
      nonmosaic forms has long been recognized as a cause of abnormal prenatal and 
      postnatal development. Traditionally, cytogenetic analysis of cultured 
      lymphocytes has been used as a standard test for detection of constitutional 
      aneuploidies. As lymphocytes represent only one lineage, chromosomal mosaicism 
      expressed in other tissues often remains undetected. The purpose of this study 
      was to assess the utilization of molecular cytogenetic analysis for detection of 
      chromosomal aneuploidy in placental tissues. Using placentas from 100 pregnancies 
      with viable nonmalformed livebirths, both trophoblast and chorionic stroma were 
      analyzed using comparative genomic hybridization (CGH). In all cases with an 
      indication of chromosomal imbalance by CGH, fluorescence in situ hybridization 
      (FISH) analysis was performed to confirm the presence of aneuploidy. To 
      differentiate between constitutional aneuploidy and confined placental mosaicism 
      (CPM), amniotic membrane was analyzed by CGH and FISH techniques. Our results 
      demonstrated five placentas with CPM for chromosomes 2, 4, 12, 13, and 18, 
      respectively, and two constitutional nonmosaic aneuploidies (47,XXX and 47,XXY). 
      Molecular cytogenetic studies of human placental tissues enables easy analysis of 
      both embryonic (amnion) and extraembryonic (chorion) cell lineages. Detection at 
      birth of chromosomal defects affecting intrauterine placental and fetal 
      development is important because these chromosomal defects may continue to have 
      an influence on postnatal development.
FAU - Lestou, V S
AU  - Lestou VS
AD  - Department of Pathology and Laboratory Medicine, The University of British 
      Columbia, Vancouver, Canada.
FAU - Desilets, V
AU  - Desilets V
FAU - Lomax, B L
AU  - Lomax BL
FAU - Barrett, I J
AU  - Barrett IJ
FAU - Wilson, R D
AU  - Wilson RD
FAU - Langlois, S
AU  - Langlois S
FAU - Kalousek, D K
AU  - Kalousek DK
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amnion/metabolism
MH  - Aneuploidy
MH  - Chromosome Aberrations/*genetics
MH  - DNA/genetics
MH  - Female
MH  - Genetic Testing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - *Nucleic Acid Hybridization
MH  - Placenta/metabolism
MH  - Pregnancy
MH  - Trophoblasts/metabolism
MH  - Uterus/metabolism
EDAT- 2000/06/08 09:00
MHDA- 2000/07/15 11:00
CRDT- 2000/06/08 09:00
PHST- 2000/06/08 09:00 [pubmed]
PHST- 2000/07/15 11:00 [medline]
PHST- 2000/06/08 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000605)92:4<281::AID-AJMG12>3.0.CO;2-S [pii]
AID - 10.1002/(sici)1096-8628(20000605)92:4<281::aid-ajmg12>3.0.co;2-s [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jun 5;92(4):281-4. doi: 
      10.1002/(sici)1096-8628(20000605)92:4<281::aid-ajmg12>3.0.co;2-s.