[两例特纳综合征患者小额外标记染色体的鉴定]

[Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome].

作者信息

Wen Juan, Liang Desheng, Liao Xi, Xue Jinjie, Tang Guizhi, Xia Yan, Long Zhigao, Dai Heping, Wu Lingqian

机构信息

National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):659-63. doi: 10.3760/cma.j.issn.1003-9406.2009.06.011.

DOI:10.3760/cma.j.issn.1003-9406.2009.06.011

PMID:19953489

Abstract

OBJECTIVE

To identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.

METHODS

High resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.

RESULTS

The karyotypes of the two patients were 45, X [29]/46,X, +mar[31] and 45,X[71]/46,X, +mar[29] respectively. SRY test indicated SRY-positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic(Y)(q10)[31]. ish idic(Y)(q10)(RP11-115H13x2) (SRY+) by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/46,X, r(X)(p11.23q21)[29]. ish r(X) (p11.23q21)(AL591394.11xAC092268.3).

CONCLUSION

Using cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.

摘要

目的

鉴定两例特纳综合征患者的小额外标记染色体（sSMC），并指导遗传咨询和医学治疗。

方法

对两例患者进行高分辨率GTG和C带分析、聚合酶链反应（PCR）扩增SRY以及中期染色体荧光原位杂交（FISH）。

结果

两例患者的核型分别为45,X[29]/46,X,+mar[31]和45,X[71]/46,X,+mar[29]。SRY检测表明患者1的SRY呈阳性，其sSMC源自Y染色体。核型经FISH确认为45,X[29]/46,X,idic(Y)(q10)[31]。ish idic(Y)(q10)(RP11-115H13x2)(SRY+)。而患者2的sSMC源自X染色体，其核型确定为45,X[71]/46,X,r(X)(p11.23q21)[29]。ish r(X)(p11.23q21)(AL591394.11xAC092268.3)。