Extremer Gewebe-Mosaizismus bei Trisomie 8-Syndrom - Trisomie 8 in Fibroblasten bei normalem Karyotyp in Lymphozyten

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Abstract
A five year old boy is reported with typical signs of Trisomy 8-Syndrome: long, narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic ears, deep palmar and plantar furrows, scoliosis, and only mild retardation. The karyotype in 150 lymphocytes was normal. In fibroblast culture mosaicism was found: 46,XY/47,XY,+8.