PMID- 7590699
OWN - NLM
STAT- MEDLINE
DCOM- 19951220
LR  - 20190722
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 26
IP  - 11
DP  - 1995 Nov
TI  - Detection of chromosomal abnormalities in the dysmorphic fetus using fluorescence 
      in situ hybridization: evaluation for monosomy X genotype.
PG  - 1241-4
AB  - The cytogenetic abnormalities of dysmorphic fetuses who died in utero cannot be 
      analyzed reliably by karyotyping. To overcome this obstacle, the authors applied 
      fluorescence in situ hybridization (FISH) to formalin-fixed, paraffin-embedded 
      tissue of two female infants and 13 female fetuses whose phenotypic features 
      suggested possible Turner's syndrome. Previous cytogenetic evaluation of the 
      amnionic fluid showed five were 45,XO karyotype; two were 46,XX karotype; and 
      eight were of unknown karyotype. Karyotyping had been attempted on four of the 
      unknown cases without success. The copy number of X chromosomes were correctly 
      identified by FISH in all previously karyotyped cases. Of the remaining eight 
      cases with unknown karyotype, three appeared to be XX, and five cases were 
      identified as monosomy XO, confirming the suspicion of Turner's syndrome 
      genotype. FISH is useful for confirming suspected Turner's syndrome genotypes in 
      infants and macerated fetuses in which a karyotype cannot be obtained otherwise.
FAU - Slagel, D D
AU  - Slagel DD
AD  - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City 
      52242-1009, USA.
FAU - Bromley, C M
AU  - Bromley CM
FAU - Benda, J A
AU  - Benda JA
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
SB  - IM
MH  - Female
MH  - Fetus/*pathology/ultrastructure
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - *Monosomy
MH  - Phenotype
MH  - Placenta/pathology
MH  - Pregnancy
MH  - Sex Chromosome Aberrations/*diagnosis/*pathology
MH  - Turner Syndrome/diagnosis/genetics/pathology
MH  - *X Chromosome
EDAT- 1995/11/01 00:00
MHDA- 1995/11/01 00:01
CRDT- 1995/11/01 00:00
PHST- 1995/11/01 00:00 [pubmed]
PHST- 1995/11/01 00:01 [medline]
PHST- 1995/11/01 00:00 [entrez]
AID - 0046-8177(95)90200-7 [pii]
AID - 10.1016/0046-8177(95)90200-7 [doi]
PST - ppublish
SO  - Hum Pathol. 1995 Nov;26(11):1241-4. doi: 10.1016/0046-8177(95)90200-7.