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Related Experiment Videos

Del (X)(p21.2) in a mother and two daughters with variable ovarian function

A R Zinn1, B Ouyang, J L Ross

  • 1Department of Internal Medicine and Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas 75235, USA. andrew@mcdermott.swmed.edu

Clinical Genetics
|January 24, 1998
PubMed
Summary

A woman with a mosaic karyotype transmitted a deleted X chromosome to her daughters, causing Ullrich-Turner syndrome features in all three. This highlights the importance of genetic counseling for X chromosome deletions.

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Area of Science:

  • Genetics
  • Human genetics
  • Reproductive genetics

Background:

  • Ullrich-Turner syndrome (UTS) is a chromosomal condition affecting females, typically characterized by short stature and ovarian insufficiency.
  • Mosaic karyotypes, involving cell populations with different chromosomal compositions, can present complex diagnostic challenges.
  • X chromosome deletions, particularly terminal or interstitial deletions, are associated with a spectrum of phenotypes.

Observation:

  • A family study identified a woman with a mosaic karyotype (45,X/46,X,del(X)(p21.2)) who passed the deleted X chromosome to her two daughters.
  • Fluorescent in situ hybridization (FISH) confirmed the specific deletion on the X chromosome (p21.2).
  • All three individuals exhibited somatic features consistent with Ullrich-Turner syndrome.

Findings:

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  • Despite sharing the deleted X chromosome and UTS features, only one daughter experienced ovarian failure, indicating variable expressivity.
  • The transmission pattern suggests that the deleted X chromosome segment (Xp21.2) plays a role in UTS phenotype, but other genetic or environmental factors may influence severity.
  • Mosaicism in the mother contributed to the inheritance of the deletion in her offspring.

Implications:

  • This case underscores the need for comprehensive genetic evaluation in families with X chromosome abnormalities and UTS.
  • It emphasizes the importance of considering genotype-phenotype correlations for X chromosome deletions, as deletions in the same region can lead to varied clinical outcomes.
  • The findings support the utility of FISH for precise characterization of X chromosome deletions and their inheritance patterns in UTS patients.