PMID- 9759471
OWN - NLM
STAT- MEDLINE
DCOM- 19981204
LR  - 20060809
IS  - 0003-4800 (Print)
IS  - 0003-4800 (Linking)
VI  - 62
IP  - Pt 2
DP  - 1998 Mar
TI  - Cytogenetic and molecular investigations of Y chromosome sequences and their role 
      in Turner syndrome.
PG  - 99-106
AB  - It has been proposed that all live born females with Turner syndrome carry a cell 
      line containing two sex chromosomes, which may be present at a low level of 
      mosaicism (Hook & Warburton, 1983; Hassold et al. 1985; 1988; Connor & Loughlin, 
      1989). If the second sex chromosome is a Y, these patients are at risk of 
      developing gonadoblastoma. In this study, 50 patients found to have a 45,X 
      karyotype by conventional cytogenetic analysis, were screened by the polymerase 
      chain reaction (PCR), for the presence of Y chromosome sequences. Two patients 
      were positive for six of the eight Y chromosome loci tested and additional 
      cytogenetic analysis confirmed the presence of a marker chromosome, in 8% and 3% 
      of cells respectively. Fluorescence in situ hybridization (FISH) was used to 
      confirm that the markers were of Y chromosome origin and helped to elucidate 
      their structure. In addition, four other patients were found to have a Y 
      chromosome by initial routine cytogenetic analysis. FISH, in conjunction with 
      PCR, elucidated the structure of the Y chromosomes. This study illustrates the 
      value of using a combination of cytogenetic and molecular techniques, to identify 
      Y chromosome sequences in Turner syndrome.
FAU - Quilter, C R
AU  - Quilter CR
AD  - Galton Laboratory, University College London, UK. c.quilter@ucl.ac.uk
FAU - Taylor, K
AU  - Taylor K
FAU - Conway, G S
AU  - Conway GS
FAU - Nathwani, N
AU  - Nathwani N
FAU - Delhanty, J D
AU  - Delhanty JD
LA  - eng
PT  - Journal Article
PL  - England
TA  - Ann Hum Genet
JT  - Annals of human genetics
JID - 0416661
SB  - IM
MH  - Cytogenetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism
MH  - Polymerase Chain Reaction/methods
MH  - Turner Syndrome/*genetics
MH  - *Y Chromosome
EDAT- 1998/10/06 00:00
MHDA- 1998/10/06 00:01
CRDT- 1998/10/06 00:00
PHST- 1998/10/06 00:00 [pubmed]
PHST- 1998/10/06 00:01 [medline]
PHST- 1998/10/06 00:00 [entrez]
AID - 10.1046/j.1469-1809.1998.6220099.x [doi]
PST - ppublish
SO  - Ann Hum Genet. 1998 Mar;62(Pt 2):99-106. doi: 10.1046/j.1469-1809.1998.6220099.x.