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Deletion 9p and sex reversal
C P Bennett1, Z Docherty, S A Robb
1Department of Clinical Genetics, Leeds General Infirmary, UK.
Journal of Medical Genetics
|June 1, 1993
Summary
A female infant with a de novo deletion on chromosome 9 short arm shows sex reversal despite an intact SRY gene. This suggests a critical gene for male testicular development is located on chromosome 9 short arm.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Sex determination in mammals is a complex process involving multiple genes.
- The SRY gene on the Y chromosome is considered the primary determinant of male sex.
- Variations in sex development can occur even with an apparently intact SRY gene.
Observation:
- A female infant presented with a de novo deletion of the short arm of chromosome 9.
- The infant exhibited sex reversal, meaning chromosomal sex (XY) did not match phenotypic sex (female).
- Genetic analysis revealed that the SRY gene on the Y chromosome was present and appeared structurally intact.
Findings:
- The case provides evidence for a gene on the terminal segment of the short arm of chromosome 9 (9p) that is crucial for male testicular development.
- This finding is supported by previous reports of sex reversal in individuals with deletions in this specific chromosomal region.
- The deletion on 9p likely disrupts a gene essential for initiating or maintaining male gonad development, independent of SRY.
Implications:
- This research contributes to understanding the genetic underpinnings of sex determination and differentiation.
- Identifying genes on chromosome 9p involved in testicular development may aid in diagnosing and managing disorders of sex development (DSDs).
- Further research into these 9p genes could uncover novel pathways critical for early male gonadogenesis.