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Published: 2024-05-31
Abstract Views: 10
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Issue
Vol. 16 No. 6 (2023)
Section
Research

CLINICAL AND CYTOGENETIC OF THREE CASES WITH ISODICENTRIC Y CHROMOSOME

Thi Hong Nhung Dinh1, Thuy Lan An1, Thi Thanh Moc Hoang1, Thi Nga Tran1, Thi Lieu Le1, Thi Bich Ngoc Ngo1, Thi Huyen Tran1, Xuan Huy Nguyen1, Chi Dung Vu1, Diem Ngoc Ngo1
1 Vietnam National Children’s Hospital

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Abstract

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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Keywords

Vietnam National Children’s Hospital, isodicentric Y, 46, X, idic(Y)(p11.32), idic(Y)(q11.2)

References

1. DesGroseilliers M, Bergeron MB, Brochu P et al. Phenotypic variability in isodicentric Y patients: Study of nice cases. Clinical Genetics 2006;70(2):145-150. https://doi.org/10.1111/j.1399-0004.2006.00654.x
2. Yang Y, Hao W. Clinical, cytogenetic, and molecular fndings of isodicentric y chromosomes. Molecular Cytogenetics 2019;12(1). https://doi.org/10.1186/s13039-019-0465-x
3. Manotas MC, Garcia-Acero M, Gonzalez DM et al. Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome. Sexual Development 2020;14(1–6):12-20. https://doi.org/10.1159/000512803
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.