Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

AUTOR(ES)
RESUMO

Cytogenetic studies of an infant with malformations and a peculiar appearance showed a partial trisomy of chromosome 12. The mother carried a translocation of the distal part of chromosome 12 onto the short arm of chromosome 21, with breakpoints most likely at 12q24 and 21p11.

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