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Case Reports
. 1979 Jan 25;46(2):135-40.
doi: 10.1007/BF00291913.

Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy

I Kondo, H Hamaguchi, T Haneda
Case Reports

Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy

I Kondo et al. Hum Genet. .

Abstract

The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.

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References

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