Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

AUTOR(ES)

Sills, J A

RESUMO

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.

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