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Trisomy 12p syndrome

✍ Scribed by Ikuko Kondo; Hideo Hamaguchi; Tadashi Haneda

Publisher: Springer
Year: 1979
Tongue: English
Weight: 319 KB
Volume: 46
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00291913

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✦ Synopsis

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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Familial 12/15 translocation with a child trisomic for the short arm of chromosome 12 (segment of 12.1 leads to pter) is reported. The clinical picture of the child is strikingly similar to previous reports of 12p trisomy. The main symptoms of 12p syndrome are defined.

Trisomy 12p due to familial t(12p-,6q+)

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## Abstract Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may present as a pure trisomy (complete or incomplete), as mosaic trisomy, or with other chromosomal abnormalities. Little is known from prior reports about the na

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Clinical and molecular cytogenetic obser

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Two unpublished cases with partial tandem duplication of 12p and one previously published case were studied by fluorescence in situ hybridization using 11 cosmid DNA probes from 12p. We propose that the smallest duplications of 12(p13.2pter) and 12(p13.lp13.33) produce the "trisomy 12p syndrome" whi

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