PMID- 10867485
OWN - NLM
STAT- MEDLINE
DCOM- 20000823
LR  - 20171101
IS  - 1015-3837 (Print)
IS  - 1015-3837 (Linking)
VI  - 15
IP  - 4
DP  - 2000 Jul-Aug
TI  - Usefulness of fluorescence in situ hybridization for the diagnosis of Turner 
      mosaic fetuses with small ring X chromosomes.
PG  - 229-33
AB  - OBJECTIVE: To emphasize the usefulness of fluorescence in situ hybridization 
      (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic 
      karyotypes. METHODS: In the course of three prenatal diagnoses, specific 
      fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, 
      were applied on amniocyte preparations directly after amniocentesis. At least 50 
      nuclei were counted in each case. Parallel to the FISH procedure, cell cultures 
      were set up in order to obtain karyotypes. FISH and cytogenetic results were then 
      compared. RESULTS: In each case, FISH showed an abnormal mosaic chromosomal 
      constitution, 45,X/46,XX, which was related to the existence of tiny ring X 
      chromosomes in karyotypes. CONCLUSION: Because very small ring X chromosomes can 
      escape identification when standard cytogenetic techniques are used alone, we 
      show that misdiagnosis can be avoided when FISH is performed beforehand.
CI  - Copyright 2000 S. Karger AG, Basel.
FAU - Siffroi, J P
AU  - Siffroi JP
AD  - Service d'Histologie, Biologie de la Reproduction et Cytogenetique, Hopital 
      Tenon, Paris, France. jean-pierre.siffroi@tnn.ap-hop-paris.fr
FAU - Dupuy, O
AU  - Dupuy O
FAU - Joye, N
AU  - Joye N
FAU - Le Bourhis, C
AU  - Le Bourhis C
FAU - Benzacken, B
AU  - Benzacken B
FAU - Portnoi, M
AU  - Portnoi M
FAU - Berkane, N
AU  - Berkane N
FAU - Franco, J C
AU  - Franco JC
FAU - Studer, C
AU  - Studer C
FAU - Carbonne, B
AU  - Carbonne B
FAU - Gonzales, M
AU  - Gonzales M
FAU - Bucourt, M
AU  - Bucourt M
FAU - Uzan, S
AU  - Uzan S
FAU - Uzan, M
AU  - Uzan M
FAU - Milliez, J
AU  - Milliez J
FAU - Wolf, J P
AU  - Wolf JP
FAU - Taillemite, J
AU  - Taillemite J
FAU - Dadoune, J P
AU  - Dadoune JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Fetal Diagn Ther
JT  - Fetal diagnosis and therapy
JID - 9107463
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/cytology
MH  - Cells, Cultured
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Ring Chromosomes
MH  - Turner Syndrome/*diagnosis/genetics
MH  - *Ultrasonography, Prenatal
MH  - *X Chromosome
EDAT- 2000/06/27 11:00
MHDA- 2000/08/29 11:01
CRDT- 2000/06/27 11:00
PHST- 2000/06/27 11:00 [pubmed]
PHST- 2000/08/29 11:01 [medline]
PHST- 2000/06/27 11:00 [entrez]
AID - 21012 [pii]
AID - 10.1159/000021012 [doi]
PST - ppublish
SO  - Fetal Diagn Ther. 2000 Jul-Aug;15(4):229-33. doi: 10.1159/000021012.