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Two patients with DSD associated with unique mosaicism and psu dic(Y;22)
https://doi.org/10.25557/2073-7998.2022.02.32-43
Abstract
We report two DSD patients’ cases associated with unique mosaicism and psu dic(Y;22). The first patient has four cell lines in karyotype: mos 47,XYY[9]/46,XY,psu dic(Y;22)(p11.32;p13)dn[9]/45,X[3]/46,ХY[9]. The second patient has two abnormal cell lines in karyotype: mos 45,X[16]/45,X.ish psu dic(Y;22)(q11;p13)dn [9]. In both patients the psu dic(Y;22) was formed de novo, gonosomal mosaicism was detected in peripheral blood lymphocytes and buccal epithelium. The inter-tissue variability of different cell lines was estimated as high (patient 1) and extremely high (patient 2). We discuss clinical phenotypes, suppose mechanisms of sex chromosome abnormalities and mosaicism formation, diagnostic problems and result nuances.
About the Authors
N. V. Oparina
Moscow Regional Scientific Research Clinical Institute; Petrovsky Natyonal Research Centre of Surgery
Russian Federation
Russian Federation
N. Y. Raygorodskaya
Saratov State Medical University
Russian Federation
Russian Federation
O. Yu. Latyshev
Russian Medical Academy of Continuous Professional Education of Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Yu. M. Zinovyeva
Moscow Regional Scientific Research Clinical Institute
Russian Federation
Russian Federation
I. I. Romanova
Igenomix laboratory
Russian Federation
Russian Federation
M. V. Kibanov
Igenomix laboratory
Russian Federation
Russian Federation
V. B. Chernykh
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Oparina N.V., Raygorodskaya N.Y., Latyshev O.Yu., Zinovyeva Yu.M., Romanova I.I., Kibanov M.V., Chernykh V.B. Two patients with DSD associated with unique mosaicism and psu dic(Y;22). Medical Genetics. 2022;21(2):32-43. (In Russ.) https://doi.org/10.25557/2073-7998.2022.02.32-43
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