Clinical follow up of uniparental disomy 16: First data

摘要: Following the introduction of concept uniparental disomy (UPD) in 1980 by Engel this segregational anomaly is reported an ever increasing number patients. So far, several groups individuals with increased risk for UPD have been identified including abnormal carriers familial balanced translocations or centric fusions, mosaic trisomies, and fetuses after prenatal diagnosis confined placental mosaicism. A major pathogenetic mechanism appears to be post-meiotic chromosome loss trisomic conceptuses. was repeatedly observed fetus non-mosaic trisomies placenta which are usually considered {open_quotes}lethal{close_quotes} (i.e. 15 16). In ongoing study determine incidence clinical consequences we investigated parental origin chromosomes disomic cell line mosaicism various (e.g. 2, 7, 14, 15, At present, two maternal disomies 16 one were identified. Severe intrauterine growth retardation a common symptome which, however, also present some but not all mosaics biparental question. While prognosis clear instances 15) counseling can extremely difficultmore » others, when imprinting effects homozygosity unknown recessive traits parent considered. To assess significance, detailed follow-up studies proven cases essential. First data presented.« less