Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1978-12-27
|
| pubmed:abstractText |
A boy with trisomy of the short arm of chromosome 7 is reported. He presented several congenital malformations, such as: dolicocephaly; wide fontanelle; hypertelorism; antimongoloid slanting of the palpebral fissures; small, carp-shaped mouth; thin neck; extrinsic compression of the oesophagus; congenital dislocation of the shoulders and hips; and a possible cardiac defect. The proband's mother had a balanced translocation involving the short arm of chromosomes 7 and 14. In this family the translocation has been transmitted through three generations.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
202-6
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:699358-Abnormalities, Multiple,
pubmed-meshheading:699358-Chromosomes, Human, 13-15,
pubmed-meshheading:699358-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:699358-Female,
pubmed-meshheading:699358-Humans,
pubmed-meshheading:699358-Infant,
pubmed-meshheading:699358-Intellectual Disability,
pubmed-meshheading:699358-Male,
pubmed-meshheading:699358-Pedigree,
pubmed-meshheading:699358-Translocation, Genetic,
pubmed-meshheading:699358-Trisomy
|
| pubmed:year |
1978
|
| pubmed:articleTitle |
Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11).
|
| pubmed:publicationType |
Journal Article,
Case Reports
|