Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

doi:10.1038/ng0693-170

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Article

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

Nature genetics - 1 Jun 1993

Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held K R, Reinwein H

Abstract excerpt

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24-q25. All three 17q...

Topics

Abnormalities, Multiple
Adult
Base Sequence
Bone Diseases, Developmental
Chromosome Aberrations
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Chromosomes, Human, Pair 7

Disorders of Sex Development

Female

Genetic Markers

Gonadal Dysgenesis

Humans

In Situ Hybridization, Fluorescence

Infant, Newborn

Source

Open in PubMed

Identifiers

PMID: 8348155
DOI: 10.1038/ng0693-170

Genes

SRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.PMID 8348155Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.Semantic proximity Read ↗

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