PMID- 10925388
OWN - NLM
STAT- MEDLINE
DCOM- 20001130
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 93
IP  - 3
DP  - 2000 Jul 31
TI  - Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi 
      (45,X) and cultured villi (46,XY).
PG  - 230-3
AB  - We report on a prenatally detected case of discordant non-mosaic karyotypes 
      following chorionic villus sampling. A 45,X karyotype was found in 
      cytotrophoblast cells and a 46,XY karyotype in mesenchymal core cells. A 
      subsequent amniocentesis showed a true 45,X/46,XY mosaicism. Confirmatory 
      studies, including fluorescence in situ hybridization (FISH) in various fetal and 
      placental tissues as well as in the original villi preparations changed the 
      presumed condition of generalized mosaicism with culture confined normality to 
      that of generalized mosaicism with absolute concordance. This case underscores 
      the importance of the investigation of both short-term and cultured villi 
      preparations, the implementation of prenatal FISH studies, and the need for 
      thorough follow-up investigation in cases of discrepant results.
FAU - van den Berg, C
AU  - van den Berg C
AD  - Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus 
      University, Rotterdam, The Netherlands. cberg@kgen.fgg.eur.nl
FAU - Van Opstal, D
AU  - Van Opstal D
FAU - Brandenburg, H
AU  - Brandenburg H
FAU - Los, F J
AU  - Los FJ
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Chorionic Villi Sampling/*methods
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - *Chromosome Disorders
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - In Vitro Techniques
MH  - Karyotyping
MH  - Models, Genetic
MH  - Pregnancy
MH  - Reproducibility of Results
MH  - *X Chromosome
MH  - *Y Chromosome
EDAT- 2000/08/05 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/08/05 11:00
PHST- 2000/08/05 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/08/05 11:00 [entrez]
AID - 10.1002/1096-8628(20000731)93:3<230::AID-AJMG14>3.0.CO;2-O [pii]
AID - 10.1002/1096-8628(20000731)93:3<230::aid-ajmg14>3.0.co;2-o [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jul 31;93(3):230-3. doi: 
      10.1002/1096-8628(20000731)93:3<230::aid-ajmg14>3.0.co;2-o.