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- Title
A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.
- Authors
Yin, Hui; Xie, Hua; Zou, Jizhen; Ye, Xue; Liu, Ying; He, Cai; Shangguan, Shaofang; Liu, Haoran; Chen, Xiaoli; Chen, Xiaobo
- Abstract
Background: Isodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are relatively rare. Case presentation: We described a 10-year-old boy presenting hypospadias, micropenis and short stature, as well as unilateral cryptorchidism without normal testicular seminiferous tubules structure by biopsy. Whole exome sequencing didn't find any pathogenic/likely pathogenic variants related to phenotypes of this patient. Copy number variation sequencing showed the duplication of whole Y chromosome. Subsequently, karyotyping and FISH analyses demonstrated his genetic diagnosis was mosaic 45,X[8]/46,X,psu idic(Y)(q12)[32], with the breakpoint in Yq12. Conclusions: Our case proved that it would be beneficial to integrate high-throughput sequencing with cytogenetic technique for precise diagnosis, treatment and genetic counselling.
- Subjects
GENETIC counseling; NUCLEOTIDE sequencing; GENETIC disorder diagnosis; Y chromosome; HUMAN chromosome abnormalities; CRYPTORCHISM; HYPOSPADIAS
- Publication
BMC Pediatrics, 2023, Vol 23, Issue 1, p1
- ISSN
1471-2431
- Publication type
Case Study
- DOI
10.1186/s12887-023-03872-y