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[Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]]

Ting Yin1, Fang Zhang, Xinxin Tang

  • 1Central Laboratory, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222062, China. wangleileiok@qq.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|August 3, 2024
PubMed

Insights

Structural chromosomal abnormality, specifically a pseudodicentric isochromosome X (psu idic(X)), caused gonadal dysplasia in a 13-year-old girl. Deletion in Xq21.32q28 is linked to Turner syndrome-like features.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Pediatrics

Background:

  • Gonadal dysplasia presents a complex challenge in pediatric endocrinology.
  • Understanding the genetic underpinnings of gonadal dysplasia is crucial for accurate diagnosis and management.
  • Structural chromosomal abnormalities, particularly those involving the X chromosome, are implicated in various forms of gonadal dysfunction.

Purpose of the Study:

  • To investigate the correlation between a specific structural chromosomal abnormality and the clinical presentation of gonadal dysplasia in a pediatric patient.
  • To analyze the genetic and phenotypic characteristics of a 13-year-old girl with primary amenorrhea and gonadal abnormalities.

Main Methods:

  • Case study of a 13-year-old girl with primary amenorrhea and abdominal pain.
  • Collection and analysis of clinical data, peripheral blood samples from the patient and parents.
  • G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq).
  • Retrospective literature search using keywords "pseudodual centromere isochromosome X" and "psu idic(X)".

Main Results:

  • The patient presented with primary amenorrhea, elevated FSH and LH, low E2, small ovaries, and a rudimentary uterus.
  • Karyotyping revealed 46,X,psu idic(X)(q21.3)/45,X mosaicism, with normal parental karyotypes.
  • CNV-seq identified a deletion in Xq21.32q28 and a duplication in Xp22.33q21.32.
  • Literature review indicated diverse phenotypes related to mosaicism rate and breakpoint location in similar cases.

Conclusions:

  • The identified 46,X,psu idic(X)(q21.3)/45,X karyotype is likely responsible for the patient's uterine and ovarian dysplasia and hormonal abnormalities.
  • Deletion of Xq21.32q28 is a significant factor contributing to Turner syndrome-like phenotypes, including rudimentary uterus and ovarian dysplasia.
  • Height was not significantly affected in this case, despite the chromosomal abnormality.
Abstract

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