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CASE REPORT article

Front. Genet.
Sec. Molecular Cytogenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1436469

Prenatal diagnosis of dicentric chromosome X mosaicism: A Case Report and Review

Provisionally accepted
Rong Hua Rong Hua *Ke Wu Ke Wu Xiao L. Hu Xiao L. Hu *
  • Quzhou Maternity and Child Health Care Hospital, Quzhou, China

The final, formatted version of the article will be published soon.

    A dicentric chromosome is an abnormal chromosome with two centromeres on the same chromosome. It have been reported that dicentric chromosomes are specific biomarker of radiation exposure, but dicentric chromosomes are rarely identified in newborn with multiple congenital anomalies. At 16 weeks of gestation, a 39-year-old pregnant woman (gravida 2, para 1) was referred to the prenatal diagnosis center for genetic counselling. The fetal ultrasonography indicated multiple anomalies.Subsequently, amniocentesis was performed, the G-banding karyotype analysis showed a rare type of mosaicism. The C-banding karyotype analysis indicated a pseudo dicentric chromosome X [psu dic(X;18)(p11.2;p11.2)]. Single nucleotide polymorphism array (SNP array) revealed three pathogenic copy number variations (CNVs). After genetic counselling, the parent chose to terminate this pregnancy. This study provides new evidence for a better understanding of the diagnosis of dicentric chromosomes and emphasizes the importance of genetic counseling.

    Keywords: dicentric chromosome, C-banding karyotype, Fetal ultrasonography, Genetic Counseling, Chromosomal microarray analysis

    Received: 22 May 2024; Accepted: 01 Jul 2024.

    Copyright: © 2024 Hua, Wu and Hu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Rong Hua, Quzhou Maternity and Child Health Care Hospital, Quzhou, China
    Xiao L. Hu, Quzhou Maternity and Child Health Care Hospital, Quzhou, China

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