|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1980-8-15
|
|
pubmed:abstractText |
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.
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0022-2593
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
17
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
144-8
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:6445984-Adult,
pubmed-meshheading:6445984-Chromosome Aberrations,
pubmed-meshheading:6445984-Chromosome Banding,
pubmed-meshheading:6445984-Chromosomes, Human, 21-22 and Y,
pubmed-meshheading:6445984-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6445984-Down Syndrome,
pubmed-meshheading:6445984-Female,
pubmed-meshheading:6445984-Humans,
pubmed-meshheading:6445984-Infant, Newborn,
pubmed-meshheading:6445984-Karyotyping,
pubmed-meshheading:6445984-Pedigree,
pubmed-meshheading:6445984-Translocation, Genetic
|
|
pubmed:year |
1980
|
|
pubmed:articleTitle |
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
