RT Journal Article
SR Electronic
T1 Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 144
OP 148
DO 10.1136/jmg.17.2.144
VO 17
IS 2
A1 J M Berg
A1 H A Gardner
A1 R J Gardner
A1 E G Goh
A1 V D Markovic
A1 N E Simpson
A1 R G Worton
YR 1980
UL http://jmg.bmj.com/content/17/2/144.abstract
AB 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.