Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities.

@article{Tihy2005ComplexCR,
  title={Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities.},
  author={Fr{\'e}d{\'e}rique Tihy and Nicole Lemieux and Emmanuelle Lemyre},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={135 3},
  pages={317-9}
}
We report on the diagnosis of a complex chromosome rearrangement in a mother and the transmission of a simplified translocation in her fetus. The mother had mental retardation, short stature, facial dysmorphism, and hydronephrosis, but was never investigated before she was pregnant. A blood sample was taken for karyotyping at the time of amniocentesis for advanced maternal age. The mother's karyotype revealed two translocations involving chromosome 5, chromosome 16 twice, and chromosome 20 as… CONTINUE READING
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