Partial trisomie 5q: Three different phenotypes depending on different duplication segments

@article{Rodewald1980PartialT5,
  title={Partial trisomie 5q: Three different phenotypes depending on different duplication segments},
  author={Alexander Rodewald and Merve Zankl and E. -O. Gley and Klaus Dieter Zang},
  journal={Human Genetics},
  year={1980},
  volume={55},
  pages={191-198}
}
On the basis of phenotypic similarities and differences among patients with a partial trisomy of chromosome 5q, three clinically distinguishable phenotypes are suggested. Each corresponds to a distinct abnormal karyotype in which there is partial duplication of a different segment of the long arm of chromosome 5 (5q+). The hypothesis is derived from 12 published cases of partial trisomy 5q, and from 2 additional new cases of partial trisomy 5q31→qter in a family with a balanced translocation, t… CONTINUE READING