PMID- 8778416
OWN - NLM
STAT- MEDLINE
DCOM- 19960916
LR  - 20041117
IS  - 0024-7758 (Print)
IS  - 0024-7758 (Linking)
VI  - 41
IP  - 3
DP  - 1996 Mar
TI  - Interphase fluorescence in situ hybridization in a Turner syndrome variant with 
      IsoXq. A case report.
PG  - 175-8
AB  - BACKGROUND: Performing fluorescence in situ hybridization (FISH) on uncultured 
      amniotic fluid cells has been known to produce rapid diagnoses of major 
      chromosomal aberrations. However, if the aberration involves a structural 
      chromosomal anomaly, the FISH result may be not only uninformative but 
      misleading. CASE: FISH with alpha-satellite probes of chromosomes X and Y was 
      performed on the uncultured amniocytes of a prenatal amniotic fluid specimen. 
      Eighty-five percent of the hybridized interphase nuclei displayed two signals 
      when probing with X; no significant hybridization was found when probing with Y. 
      This FISH result was interpreted as normal, disomic for chromosome X. Cytogenetic 
      analysis later, however, disclosed the fetal karyotype to be 46,X,i(Xq). 
      CONCLUSION: Interphase FISH with an alpha-satellite probe (or probe made of 
      repeat centromeric sequences) may be useful in the detection of a numerical 
      anomaly of a chromosome but not of a structural anomaly within the chromosome 
      itself.
FAU - Chang, S D
AU  - Chang SD
AD  - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Keelung, 
      Taiwan, Republic of China.
FAU - Lin, S L
AU  - Lin SL
FAU - Chen, F P
AU  - Chen FP
FAU - Chu, K K
AU  - Chu KK
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Reprod Med
JT  - The Journal of reproductive medicine
JID - 0173343
SB  - IM
MH  - Amniotic Fluid/*cytology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Karyotyping
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Turner Syndrome/*diagnosis
EDAT- 1996/03/01 00:00
MHDA- 1996/03/01 00:01
CRDT- 1996/03/01 00:00
PHST- 1996/03/01 00:00 [pubmed]
PHST- 1996/03/01 00:01 [medline]
PHST- 1996/03/01 00:00 [entrez]
PST - ppublish
SO  - J Reprod Med. 1996 Mar;41(3):175-8.