|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0040715,
umls-concept:C0181586,
umls-concept:C0205415,
umls-concept:C0241888,
umls-concept:C0341628,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0678226,
umls-concept:C1297882,
umls-concept:C1520273,
umls-concept:C1522702,
umls-concept:C1882911,
umls-concept:C2930745
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1981-6-13
|
|
pubmed:abstractText |
A newborn infant is reported with a karyotype showing a partial trisomy 10 (10pter leads to 10q21) and a partial monosomy 21 (21pter leads to 21q21) due to a reciprocal balanced familial translocation t(10;21)(q21;q21). This is the first case of partial trisomy 10 for the segment 10pter leads to 10q21.
|
|
pubmed:language |
fre
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0003-3995
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
23
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
216-20
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:6971599-Chromosome Aberrations,
pubmed-meshheading:6971599-Chromosome Disorders,
pubmed-meshheading:6971599-Chromosomes, Human, 21-22 and Y,
pubmed-meshheading:6971599-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6971599-Female,
pubmed-meshheading:6971599-Humans,
pubmed-meshheading:6971599-Infant, Newborn,
pubmed-meshheading:6971599-Karyotyping,
pubmed-meshheading:6971599-Translocation, Genetic,
pubmed-meshheading:6971599-Trisomy
|
|
pubmed:year |
1980
|
|
pubmed:articleTitle |
[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].
|
|
pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|
