Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: Relevance for prenatal diagnosis

Report of two new cases of Pallister-Kil

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection

✍ Schubert, Regine; Viersbach, Renate; Eggermann, Thomas; Hansmann, Manfred; Schwa 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12