Cytogenetic findings in Serbian patients with Turner's syndrome stigmata

Genetics and Molecular Research : GMR
V A DjordjevićM D Gotić

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.

References

Aug 1, 1979·Journal of Medical Genetics·I KondoH Takita
Dec 29, 1976·Human Genetics·C G Palmer, A Reichmann
Aug 1, 1992·Journal of Medical Genetics·C GicquelY Le Bouc
Aug 1, 1992·American Journal of Medical Genetics·D L Van DykeL Weiss
Dec 1, 1983·European Journal of Pediatrics·M B RankeF Majewski
Jan 1, 1983·Pediatric Research·E ParkC A Cowell
Jul 1, 1982·American Journal of Medical Genetics·F S CowchockD C Lesnick
Jun 1, 1994·Cancer Genetics and Cytogenetics·A NovakV Jurukovski
Jun 1, 1993·Journal of Medical Genetics·N R DennisP A Jacobs
Dec 1, 1995·Journal of Medical Genetics·T KuznetzovaV Baranov
Nov 5, 1999·Journal of Pediatric and Adolescent Gynecology·H A OmarK C Perkins
Sep 13, 2008·Cancer Genetics and Cytogenetics·Vesna DjordjevićMirjana Gotić

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Citations

Sep 25, 2012·Clinical Oral Investigations·Jovana JuloskiMarko Babic
Oct 14, 2011·Molecular Cytogenetics·Nanis S MarzukiAlida Harahap
Jan 17, 2019·Case Reports in Endocrinology·Hanane LatrechAhmed Gaouzi
Dec 10, 2020·Molecular Cytogenetics·Paola E LeoneCésar Paz-Y-Miño

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