Search PubMed⌕ Search

Biomedical subjects

J M Berg

Publications and source records attributed to J M Berg.

At least 91 records · Page 5Linked to original sources

Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.

A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.

Adult↗

Evidence for the inheritance of silver-stained nucleolus organizer regions.

The inheritance of nucleolus organizer regions (NORs) was investigated by examining the degree of silver-staining in individual acrocentric chromosomes in two successive generations. The study was undertaken in six Down's syndrome children and their respective parents. Quinacrine fluorescent polymorphisms were used to identify individual acrocentrics and to determine which of the child's acrocentrics were informative as to parental homologue of origin. Of the 66 acrocentrics in the six children, 31 were informative. The correlation between the degree of silver=staining in the child's chromosomes and the respective parental chromosomes of origin was highly significant (P less than 0.001), with a correlation coefficient of 0.90. The results suggest that the degree of Ag-AS staining is characteristic for a particular chromosome and that this characteristic is an inherited property.

Cell Nucleolus↗