Familial occurrence of 18q-

@article{ubrt1970FamilialOO,
  title={Familial occurrence of 18q-},
  author={Ivan {\vS}ubrt and Jan Pokorn{\'y}},
  journal={Humangenetik},
  year={1970},
  volume={10},
  pages={181-187}
}
An unusual segregation of the partial long arm deletion of a chromosome 18 is reported. This aberration was found in the feeble-minded mother and in her 4 daughters. The fifth child has XXY-Klinefelter's syndrome. The carriers of 18q — in this family reveal small stature, microcephaly, and mental deficiency in the range from feeble-minded to severe imbecility. Other characteristic features commonly found in patients with 18q — syndrome, as mid-face retraction, downward slanting mouth, heart… CONTINUE READING
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References

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Partial E18 long arm deletion

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  • Lancet
  • 1969

:)~l~tion partielle de bras longs du chromosome 18

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