© Kamla-Raj 2002                                                                      Int J Hum Genet, 2(2): 101-106 (2002)

Longitudinal Study in a Patient with Trisomy 8 Mosaicism: Cytogenetic and Molecular-Genetic Investigations over a

Period of Eleven Years

Burga Kalz-Füller¹, Ruth Raff¹, Thomas Eggermann²,

Gesa Schwanitz¹ and Regine Schubert¹

1. Institute of Human Genetics, University of Bonn, Germany

2. Institute of Human Genetics, RWTH Aachen, Germany

Key Words       mosaic trisomy 8;  psychomotoric development; interphase FISH; parental origin of trisomy 8

Abstract  We report on the cytogenetic and molecular-genetic investigations of a child with mosaic trisomy 8, analysed over a period of eleven years. The female patient showed clinical features and facial dysmorphisms characteristic of the syndrome as well as mentally impairment. The mosaic trisomy 8 was diagnosed prenatally in amniotic fluid cells (38%) and fetal lymphocytes (78%) and was confirmed postnatally in the umbilical cord (52%), placental biopsy (40%), lymphocytes (between 55% and 70%) and buccal mucosa cells (between 30% and 42%), demonstrating the overall prevalence of the trisomy 8 cell line in this patient was quiet high. We found no evidence of an appreciable increase or decrease in the frequency of the trisomic cell line over a period of eleven years. Molecular genetic investigation demonstrated the maternal origin of the additional chromosome 8.

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