|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1987-9-16
|
|
pubmed:abstractText |
Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0340-6717
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
76
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
396-8
|
|
pubmed:dateRevised |
2004-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:2886422-Chromosomes, Human, Pair 21,
pubmed-meshheading:2886422-DNA,
pubmed-meshheading:2886422-Down Syndrome,
pubmed-meshheading:2886422-Genetic Markers,
pubmed-meshheading:2886422-Humans,
pubmed-meshheading:2886422-Infant, Newborn,
pubmed-meshheading:2886422-Male,
pubmed-meshheading:2886422-Polymorphism, Genetic,
pubmed-meshheading:2886422-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2886422-Translocation, Genetic
|
|
pubmed:year |
1987
|
|
pubmed:articleTitle |
Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
