PMID- 10742412
OWN - NLM
STAT- MEDLINE
DCOM- 20000525
LR  - 20191103
IS  - 1093-5266 (Print)
IS  - 1093-5266 (Linking)
VI  - 3
IP  - 3
DP  - 2000 May-Jun
TI  - Detection of trisomy 18 on formalin-fixed and paraffin-embedded material by 
      fluorescence in situ hybridization.
PG  - 249-55
AB  - Formalin-fixed and paraffin-embedded autopsy material from 10 fetuses and infants 
      with unknown karyotype and anomalies suggestive of trisomy 18 were subjected to 
      fluorescence in situ hybridization (FISH). Nuclei were extracted from the tissues 
      and hybridized with a chromosome 18-specific centromere probe. The hybridization 
      was successful in 9 of 10 cases. Two cases showed three hybridization signals in 
      most of the nuclei (74% and 85%). These had anomalies frequently occurring with 
      trisomy 18 (congenital heart defect, omphalocele, and horseshoe kidney). Two 
      cases showed a mixture of two and three signals (47%/49% and 59%/36%), suggesting 
      the possibility of mosaicism. One of these cases had anomalies consistent with a 
      trisomy 18 phenotype. In the other case intrauterine growth retardation and 
      syndactylies suggested triploidy. Hybridization with a chromosome 8-specific 
      probe gave a distribution of two and three signals (34% and 62%, respectively). 
      This result strengthened the suspicion of a possible triploid mosaicism. In five 
      of the cases most of the nuclei showed two signals (85% to 88%). However, as only 
      one type of tissue was examined for enumeration of chromosome 18, the possibility 
      of organ mosaicism or other chromosome aberrations cannot be excluded. The FISH 
      technique is applicable on macerated and autolysed formalin-fixed tissue, making 
      it possible to retrospectively analyze autopsy material from aborted and 
      stillborn fetuses and infants. This analysis contributes to a better quality of 
      perinatal autopsies and is helpful in parental counseling.
FAU - Isaksen, C V
AU  - Isaksen CV
AD  - Department of Laboratory Medicine, Norwegian University of Science and 
      Technology, Trondheim University Hospital, 7006 Trondheim, Norway.
FAU - Ytterhus, B
AU  - Ytterhus B
FAU - Skarsvag, S
AU  - Skarsvag S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Dev Pathol
JT  - Pediatric and developmental pathology : the official journal of the Society for 
      Pediatric Pathology and the Paediatric Pathology Society
JID - 9809673
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Autopsy
MH  - *Chromosomes, Human, Pair 18
MH  - Gestational Age
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Paraffin Embedding
MH  - Trisomy/*diagnosis
EDAT- 2000/04/01 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/04/01 09:00
PHST- 2000/04/01 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/04/01 09:00 [entrez]
AID - 10.1007/s1002410032 [pii]
AID - 10.1007/s100249910032 [doi]
PST - ppublish
SO  - Pediatr Dev Pathol. 2000 May-Jun;3(3):249-55. doi: 10.1007/s100249910032.