Djordjević V A, Jovanović J V, Pavković-Lučić S B, Drakulić D D, Djurović M M, Gotić M D
Clinic of Hematology, Clinical Center of Serbia, Belgrade, Serbia.
Genet Mol Res. 2010 Nov 9;9(4):2213-21. doi: 10.4238/vol9-4gmr953.
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.
报告了31例特纳综合征女性患者的细胞遗传学研究结果。染色体研究取自淋巴细胞培养物。其中15例患者表现为非嵌合型45,X，而只有3例显然是嵌合体。8例患者显示X染色体非嵌合结构畸变，4例患者显示X染色体嵌合结构畸变。1例非嵌合病例显示核型包含一条小标记染色体。传统细胞遗传学通过使用X特异性探针进行荧光原位杂交（FISH）以鉴定环状染色体的染色体起源，并使用1q12特异性DNA探针鉴定1例患者的新发平衡易位（1；9）作为补充。据我们所知，这是特纳综合征中核型45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen)的首次发现。同一X特异性探针也用于鉴定1例患者的衍生染色体。
