[A new observation of trisomy 11q due to t(11,22)(q23.1; q11.1) mat (author's transl)].

Trisomy 11q in a 13-month-old patient with severe mental deficiency, generalized dysmorphia, and a cardiac anomaly represents a previously unrecognized form of malsegregation of the frequently observed translocation t(11;22)(q23.1;q11.1).

[Isovaleric acidemia. Study and treatment in 3 brothers].

The cases of 3 sibs presenting with isovaleric acidemia are reported. The first infant died when he was 9 day-old. The two others appear to have benefited from a controlled leucine diet which was introduced from the first days on of life.