Article
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
Human genetics - 1 Feb 1996
Wirth J, Wagner T, Meyer J, Pfeiffer R A, Tietze H U, Schempp W, Scherer G
Abstract excerpt
Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q. Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9. Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24). Fluorescence in situ hybridization has...
Topics
- Alleles
- Base Sequence
- Cell Line
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 6
- Disorders of Sex Development
- Female
- High Mobility Group Proteins
- Humans
- Infant, Newborn