PMID- 21064029
OWN - NLM
STAT- MEDLINE
DCOM- 20110210
LR  - 20101110
IS  - 1676-5680 (Electronic)
IS  - 1676-5680 (Linking)
VI  - 9
IP  - 4
DP  - 2010 Nov 9
TI  - Cytogenetic findings in Serbian patients with Turner's syndrome stigmata.
PG  - 2213-21
LID - 10.4238/vol9-4gmr953 [doi]
AB  - Cytogenetic findings are reported for 31 female patients with Turner's syndrome. 
      Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was 
      demonstrated in 15 of these patients, whereas only three were apparently mosaic. 
      Eight patients showed non-mosaic and four patients showed mosaic structural 
      aberrations of the X-chromosome. One non-mosaic case displayed a karyotype 
      containing a small marker chromosome. Conventional cytogenetics was supplemented 
      by fluorescence in situ hybridization (FISH) with an X-specific probe to identify 
      the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de 
      novo balanced translocation (1;9) in one patient. To our knowledge, this is the 
      first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in 
      Turner's syndrome. The same X-specific probe was also used to identify a 
      derivative chromosome in one patient.
FAU - Djordjevic, V A
AU  - Djordjevic VA
AD  - Clinic of Hematology, Clinical Center of Serbia, Belgrade, Serbia. 
      djvesna.kcs@gmail.com
FAU - Jovanovic, J V
AU  - Jovanovic JV
FAU - Pavkovic-Lucic, S B
AU  - Pavkovic-Lucic SB
FAU - Drakulic, D D
AU  - Drakulic DD
FAU - Djurovic, M M
AU  - Djurovic MM
FAU - Gotic, M D
AU  - Gotic MD
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101109
PL  - Brazil
TA  - Genet Mol Res
JT  - Genetics and molecular research : GMR
JID - 101169387
SB  - IM
MH  - *Chromosome Aberrations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism
MH  - Serbia
MH  - Turner Syndrome/*genetics
EDAT- 2010/11/11 06:00
MHDA- 2011/02/11 06:00
CRDT- 2010/11/11 06:00
PHST- 2010/11/11 06:00 [entrez]
PHST- 2010/11/11 06:00 [pubmed]
PHST- 2011/02/11 06:00 [medline]
AID - gmr953 [pii]
AID - 10.4238/vol9-4gmr953 [doi]
PST - epublish
SO  - Genet Mol Res. 2010 Nov 9;9(4):2213-21. doi: 10.4238/vol9-4gmr953.