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Non‐disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families
Author(s) -
MIKKELSEN MARGARETA,
POULSEN HANNE,
GRINSTED JßRGEN,
LANGE AKSEL
Publication year - 1980
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1980.tb00942.x
Subject(s) - trisomy , genetics , biology
Summary 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.