PMID- 10073902
OWN - NLM
STAT- MEDLINE
DCOM- 19990429
LR  - 20041117
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 19
IP  - 1
DP  - 1999 Jan
TI  - Prenatal interphase detection by FISH of a sex chromosome mosaicism when 
      cytogenetics reports a pseudomosaicism.
PG  - 25-8
AB  - We report the detection of a sex chromosome mosaicism (XY/XXY/XYY) by prenatal 
      interphase FISH (fluorescence in situ hybridization) originally identified as a 
      pseudomosaicism involving 47,XXY cells present in a routine 46,XY cytogenetic 
      analysis. After a fetal demise, interphase FISH identified the sex chromosome 
      mosaicism in all tissues examined while cytogenetic analysis revealed only a 
      normal male cell line. After prolonged exposure to colcemid, cytogenetic analysis 
      identified the 47,XXY cell line. This confirmed the presence of the mosaicism and 
      suggested that the abnormal cell line(s) may have been growth disadvantaged. This 
      in turn may have accounted for the intra-uterine fetal demise. The identification 
      by FISH and the role of growth-disadvantaged cell lines may provide a unique 
      insight into chromosomally normal fetal demises.
FAU - Pettenati, M J
AU  - Pettenati MJ
AD  - Department of Pediatrics, Wake Forest University School of Medicine, 
      Winston-Salem, NC 27157, USA.
FAU - Berry, M N
AU  - Berry MN
FAU - Hart, P S
AU  - Hart PS
FAU - Rao, P N
AU  - Rao PN
FAU - Lantz, P
AU  - Lantz P
FAU - Rosnes, J
AU  - Rosnes J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Cells, Cultured
MH  - Female
MH  - Fetal Death/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Sex Chromosomes/*genetics
EDAT- 1999/03/12 03:03
MHDA- 2000/06/20 09:00
CRDT- 1999/03/12 03:03
PHST- 1999/03/12 03:03 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/03/12 03:03 [entrez]
AID - 10.1002/(SICI)1097-0223(199901)19:1<25::AID-PD451>3.0.CO;2-J [pii]
PST - ppublish
SO  - Prenat Diagn. 1999 Jan;19(1):25-8.