'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).

AUTOR(ES)

Plessis, G

RESUMO

This report describes a male infant with partial trisomy 2q: 46,Y,der(X),t(X;2) (p22.3;q32.1)mat. The phenotype was compatible with partial trisomy 2q syndrome. Replication studies showed a random X inactivation in the mother. Soluble isocitrate dehydrogenase (IDH-1) dosage was within the expected range for a trisomic patient and favours the assignment of this locus to the region 2q32----qter.

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