Cytogenetic findings in Serbian patients with Turner's syndrome stigmata
2010
Аутори
Đorđević, V. A.Jovanović, J. V.
Pavković-Lucić, S. B.
Drakulić, Danijela
Đurović, M. M.
Gotić, M. D.
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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.
Кључне речи:
Turner's syndrome / Chromosomal abnormalitiesИзвор:
Genetics and Molecular Research, 2010, 9, 4, 2213-2221Издавач:
- FUNPEC-Editora, Ribeirao Preto
Финансирање / пројекти:
- Изучавање регулације експресије и функције хуманих SOX гена (RS-MESTD-MPN2006-2010-143028)
DOI: 10.4238/vol9-4gmr953
ISSN: 1676-5680
PubMed: 21064029
WoS: 000284324400024
Scopus: 2-s2.0-79952201571
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Đorđević, V. A. AU - Jovanović, J. V. AU - Pavković-Lucić, S. B. AU - Drakulić, Danijela AU - Đurović, M. M. AU - Gotić, M. D. PY - 2010 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/463 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. PB - FUNPEC-Editora, Ribeirao Preto T2 - Genetics and Molecular Research T1 - Cytogenetic findings in Serbian patients with Turner's syndrome stigmata EP - 2221 IS - 4 SP - 2213 VL - 9 DO - 10.4238/vol9-4gmr953 ER -
@article{ author = "Đorđević, V. A. and Jovanović, J. V. and Pavković-Lucić, S. B. and Drakulić, Danijela and Đurović, M. M. and Gotić, M. D.", year = "2010", abstract = "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.", publisher = "FUNPEC-Editora, Ribeirao Preto", journal = "Genetics and Molecular Research", title = "Cytogenetic findings in Serbian patients with Turner's syndrome stigmata", pages = "2221-2213", number = "4", volume = "9", doi = "10.4238/vol9-4gmr953" }
Đorđević, V. A., Jovanović, J. V., Pavković-Lucić, S. B., Drakulić, D., Đurović, M. M.,& Gotić, M. D.. (2010). Cytogenetic findings in Serbian patients with Turner's syndrome stigmata. in Genetics and Molecular Research FUNPEC-Editora, Ribeirao Preto., 9(4), 2213-2221. https://doi.org/10.4238/vol9-4gmr953
Đorđević VA, Jovanović JV, Pavković-Lucić SB, Drakulić D, Đurović MM, Gotić MD. Cytogenetic findings in Serbian patients with Turner's syndrome stigmata. in Genetics and Molecular Research. 2010;9(4):2213-2221. doi:10.4238/vol9-4gmr953 .
Đorđević, V. A., Jovanović, J. V., Pavković-Lucić, S. B., Drakulić, Danijela, Đurović, M. M., Gotić, M. D., "Cytogenetic findings in Serbian patients with Turner's syndrome stigmata" in Genetics and Molecular Research, 9, no. 4 (2010):2213-2221, https://doi.org/10.4238/vol9-4gmr953 . .