Non‐disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families

Abstract

QM variants on chromosome 21 and silver staining of NOR regions were applied in the study of non-disjunction in 110 families from different parts of Denmark. In 76% of the families the study was informative. Paternal failures were observed in 11% on Funen as compared 23.5% on Zealand. In one family, crossing-over on the short arms of chromosome 21 in the mother and mitotic non-disjunction of chromosome 21 was observed. Maternal first meiotic error predominates in both high maternal and low maternal age. Also in paternal non-disjunction failures of first meiotic division predominate. Two maternally and one paternally originated cases of de novo translocations were observed.