Trisomy 12p syndrome |
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| Authors: | Ikuko Kondo Hideo Hamaguchi Tadashi Haneda |
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| Institution: | (1) Department of Human Genetics, Institute of Basic Medical Science, The University of Tsukuba, Sakura-mura, Niihari-gun, Ibaraki-ken, 300-31, Japan;(2) Department of Psychology, Ibaraki Prefectural Hospital, Ibaraki, Japan |
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| Abstract: | Summary 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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