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 weig
Syndrome +12p
β Scribed by Romano Tenconi; Emanuela Piovan; Alessandro Preto; Roberto Magnabosco; Carlo Baccichetti
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 265 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
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.
π SIMILAR VOLUMES
Pallister-Killian syndrome is a rare disorder comprising multiple congenital anomalies, streaks of hypo(hyper)pigmentation, seizures, profound mental retardation, and the presence of an extra metacentric chromosome i(12)(p10), usually limited to skin fibroblasts. The mechanism and parental origin of