CLINICAL AND CYTOGENETIC OF THREE CASES WITH ISODICENTRIC Y CHROMOSOME
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Tóm tắt
Isodicentric Y is one of the most common structural abnormalities of the Y chromosome. It is unstable during cell division, can generate various types of cell lines. Most reported patients are chromosomal mosaics, generally including a 45,X cell line [1]. Clinical manifestations of people carrying isodicentric Y chromosomes are usually: Turner syndrome in women, infertility in men, ambiguous genitalia, gonadal disorders, short stature... We report 3 cases: 2 females and 1 patient of unknown gender with characteristics short stature and abnormal genitalia. All 3 cases have a mosaic mosaic karyotype between the two cell lines: 46, X,idic(Y) and 45,X, have been diagnosed in cytogenetic and molecular genetic techniques at the Vietnam National Children’s Hospital.
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Từ khóa
Vietnam National Children’s Hospital, isodicentric Y, 46, X, idic(Y)(p11.32), idic(Y)(q11.2)
Tài liệu tham khảo
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4. Yin H, Xie H, Zou J et al. A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-yearold boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling. BMC Pediatrics 2023;23(1). https://doi.org/10.1186/s12887-023-03872-y
5. Kawabe Y, Yamaguchi M, Miyagaki S et al. 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report. Clin Pediatr Endocrinol 2020;29(4):189-193. https://doi.org/10.1297/cpe.29.189.