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Familial occurrence of 18q-

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Summary

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 defect, and atretic ear canals were not observed.

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References

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Šubrt, I., Pokorny, J. Familial occurrence of 18q-. Hum Genet 10, 181–187 (1970). https://doi.org/10.1007/BF00295518

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  • DOI: https://doi.org/10.1007/BF00295518

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