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

@article{Tommerup1993AssignmentOA,
  title={Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1},
  author={Niels Tommerup and Werner Schempp and Peter Meinecke and S\oren Pedersen and Lars Bolund and Claudia Brandt and C. Goodpasture and Per Guldberg and Karsten R. Held and H. Reinwein and Ola Didrik Saugstad and Gerd Scherer and Ola Hunsbeth Skjeldal and Roland Toder and Jostein Westvik and Carl Birger van der Hagen and Ulrich Wolf},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={170-174}
}
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 breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine… CONTINUE READING