Clinical and cytogenetic study on two patients of Turner Syndrome  with small supernumerary marker chromosomes

WU Qiong; KONG Hui; CHEN Jing

doi:10.11852/zgetbjzz2022-0315

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Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (8) : 909-912. DOI: 10.11852/zgetbjzz2022-0315

Clinical and cytogenetic study on two patients of Turner Syndrome with small supernumerary marker chromosomes

WU Qiong¹, KONG Hui¹, CHEN Jing²

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Abstract

Objective To study the clinical genetics of 2 patients of Turner's syndrome (TS) carrying small supernumerary marker chromosomes (sSMC), and to explore the role of sex determining region of Y chromosome (SRY) in genotype-phenotype of TS patients. Method Cytogenetics and fluorescence in situ hybridization (FISH) were used to detect 2 TS patients with sSMC. Results sSMC of case 1 was identified as pseudoequiarm double centromeres Y with karyotype 45,X[89]/46,X, +mar[11].ish psu dic(Y)(q11.23)(SRY++,DYZ3++). Case 2 sSMC was a rare ring X with karyotype 45, X [22]/46,X.ishr(X)(p11.1q13)(DXZ1+,SRY-),rev ish dim(X) (p11.2p22.3), dim (q21q28) [8]. Conclusions The origin and composition of sSMC can be accurately identified by cytogenetics and FISH. Whether SRY is positive or not is important for phenotype and prognosis of TS patients carrying sSMC.

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small supernumerary marker chromosomes / fluorescence in situ hybridization / sex determining region of Y-chromosome / Turner's syndrome

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WU Qiong, KONG Hui, CHEN Jing. Clinical and cytogenetic study on two patients of Turner Syndrome with small supernumerary marker chromosomes[J]. Chinese Journal of Child Health Care. 2023, 31(8): 909-912 https://doi.org/10.11852/zgetbjzz2022-0315

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