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Related Experiment Videos

A 45,X/69,XXY fetus.

D R Betts1, C N Fear, T Barby

  • 1Division of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London, UK.

Clinical Genetics
|April 1, 1989
PubMed
Summary
This summary is machine-generated.

A fetus presented with ambiguous genitalia and developmental anomalies, revealing a rare 45,X/69,XXY mosaicism. This chromosomal abnormality impacts sexual development and overall fetal growth.

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Area of Science:

  • Reproductive biology
  • Human genetics
  • Developmental biology

Background:

  • Fetal development anomalies can stem from various genetic factors.
  • Chromosomal abnormalities are a significant cause of congenital malformations.

Observation:

  • A 20-week fetus exhibited incompletely masculinized external genitalia.
  • Hypoplastic adrenal glands and physical stigmata suggested a chromosomal abnormality.

Findings:

  • Karyotyping of gonad and skin revealed two cell lines: 45,X and 69,XXY.
  • The fetus was diagnosed with true 45,X/69,XXY mosaicism.

Implications:

  • This case highlights the complex genetic basis of intersex conditions.
  • Understanding mosaicism is crucial for diagnosing and managing developmental disorders.