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Ring chromosome 4 mosaicism and Potter sequence
J P Fryns1, A Kleczkowska, J Jaeken
1Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Annales De Genetique
|January 1, 1988
Summary
This study describes a rare case of 46,XY/46,XY,r(4) mosaicism in a newborn with bilateral renal agenesis. Detecting chromosomal abnormalities like ring chromosome 4 is crucial for understanding malformation sequences.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosomal abnormalities are a significant cause of congenital malformations.
- Ring chromosome 4 (r(4)) is a rare structural aberration associated with diverse phenotypes.
- Mosaicism, where an individual has cell lines with different genetic makeup, can complicate genetic diagnosis.