PMID- 10738532
OWN - NLM
STAT- MEDLINE
DCOM- 20000419
LR  - 20190915
IS  - 0003-4800 (Print)
IS  - 0003-4800 (Linking)
VI  - 63
IP  - Pt 3
DP  - 1999 May
TI  - Mosaic Turner syndrome: cytogenetics versus FISH.
PG  - 199-206
AB  - Twenty-two cases with Turner syndrome features were subjected to standard 
      cytogenetic techniques using giemsa trypsin (GTG-) banding then fluorescence in 
      situ hybridization (FISH) using a specific whole-X chromosome painting probe, 
      Quint-Essential Y-specific DNA probe (AMELY) for Yp11.2, alpha-satellite (DYZ3) 
      probe and X/Y cocktail-alpha satellite probe (ONCOR) for confirmation of the 
      initial diagnosis and comparison of the two techniques. Eight cases (36%) showed 
      the same karyotype results by both techniques [5 cases: 45,X/46,XX, 2 cases: 
      45,X/46,X,i(Xq) and one case with a triple cell line 45,X/46,XX/47,XXX]. In the 
      other 14 cases (64%) the FISH technique has identified a third cell line in 7 
      cases (32%), delineated the origin of the marker in 5 cases (23%) to be 
      derivative X and clarified the deletion of the Yp11.2 region in 2 cases (9%) with 
      the 45,X/46,XY karyotype. The application of FISH has highlighted the differences 
      between the initial diagnosis based on the standard cytogenetic technique and the 
      final diagnosis determined by the application of DNA probes specific for the X 
      and Y chromosomes. FISH proved useful in detection of the low frequency cell 
      lines which need analysis of a large number of metaphase spreads by GTG-banding, 
      helped in identifying the nature and the origin of the unknown markers which has 
      an important implication in the development of gonadal tumours and delineated the 
      deletion of the Yp11.2 region in the 45,X/46,XY Turner patients.
FAU - Abulhasan, S J
AU  - Abulhasan SJ
AD  - Kuwait Medical Genetics Centre, Maternity Hospital, Kuwait. saw@qualitynet.net
FAU - Tayel, S M
AU  - Tayel SM
FAU - al-Awadi, S A
AU  - al-Awadi SA
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - England
TA  - Ann Hum Genet
JT  - Annals of human genetics
JID - 0416661
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping/methods
MH  - *Mosaicism
MH  - Turner Syndrome/*genetics
MH  - X Chromosome/genetics
EDAT- 2000/03/30 09:00
MHDA- 2000/04/25 09:00
CRDT- 2000/03/30 09:00
PHST- 2000/03/30 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 2000/03/30 09:00 [entrez]
AID - 10.1046/j.1469-1809.1999.6330199.x [doi]
PST - ppublish
SO  - Ann Hum Genet. 1999 May;63(Pt 3):199-206. doi: 
      10.1046/j.1469-1809.1999.6330199.x.