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. 2009 Dec;26(6):659-63.
doi: 10.3760/cma.j.issn.1003-9406.2009.06.011.

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

[Article in Chinese]
Juan Wen  1 , Desheng Liang, Xi Liao, Jinjie Xue, Guizhi Tang, Yan Xia, Zhigao Long, Heping Dai, Lingqian Wu
Affiliations

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

[Article in Chinese]
Juan Wen et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec.

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.

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