Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1988-2-11
|
| pubmed:abstractText |
We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo t(15;22)(q15;p11). Up to now three other cases with a similar 15q monosomy have been reported, but the present case is the first one with a "pure" monosomy 15q.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0003-3995
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
30
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
246-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:3322163-Child, Preschool,
pubmed-meshheading:3322163-Chromosome Deletion,
pubmed-meshheading:3322163-Chromosomes, Human, Pair 15,
pubmed-meshheading:3322163-Humans,
pubmed-meshheading:3322163-Male,
pubmed-meshheading:3322163-Monosomy,
pubmed-meshheading:3322163-Translocation, Genetic
|
| pubmed:year |
1987
|
| pubmed:articleTitle |
Partial monosomy 15q due to de novo t(15;22)(q15;p11).
|
| pubmed:affiliation |
Spanish Colaborative Study of Congenital Malformations, ECEMC, Catedra de Anatonia II, Facultad de Medicina, Universidad Complutense, Madrid.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
|