Prenatal Diagnosis and Genetic Analysis of De Novo Isodicentric Y Chromosome

Zhao Q#, Lan L#, Wang M, Huang B, Yu D, Tian B, Limin Mo and Zhu C*

Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, China
#These authors contributed equally to this work

^*Correspondance to: Chunjiang Zhu 

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Abstract:

Objective: Isodicentric Y chromosome [idic(Y)] is the most common structural abnormality of the Y chromosome. Different breakpoints and fusions may lead to different clinical phenotypes. In this study, multiple techniques were used to accurately diagnose a case of prenatal idic(Y). Methods: Using karyotype analysis, high-throughput sequencing, Short Tandem Repeat (STR) analysis, Fluorescence in situ Hybridization (FISH), multiplex PCR, and other detecting techniques were used to make accurate prenatal diagnosis. Results: Amniotic fluid and umbilical cord blood karyotype results were 46,XY; high-throughput sequencing Copy Number Variation (CNV) analysis revealed two copies of the Y chromosome, FISH probes detected two centromeres of the Y chromosome, Fluorescent Quantitative PCR (QFPCR) revealed the Y chromosome STR double peak at the site, and Sequence-Tagged Sites of Y chromosome (STS) displayed Azoospermia Factor (AZF)a+b+c(+), Sex-Determining Region Y gene (SRY) (+), and SY160(-). The karyotype analysis of the parents was normal. The above test results indicated that the karyotype of the fetus was de novo 46,X, idic(Y)(q12). Conclusion: Combining multiple cytogenetic and molecular techniques may improve the accuracy of prenatal diagnosis for complex chromosomal aberrations. It will play an important role in accurate genetic counseling and reducing the birth-defect rates.

Keywords:

Isodicentric; Prenatal diagnosis; FISH; High-throughput sequencing; QF-PCR

Cite the Article:

Zhao Q, Lan L, Wang M, Huang B, Yu D, Tian B, et al. Prenatal Diagnosis and Genetic Analysis of De Novo Isodicentric Y Chromosome. Ann Clin Case Rep. 2024; 9: 2598..