Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1987-4-14
|
| pubmed:abstractText |
We describe extensive variation in the morphology and number of small marker chromosomes in a young girl whose most significant clinical findings were pulmonic stenosis, neck webbing, proptosis, camptodactyly, and developmental delay. Many of the markers had a ring structure. Some were clearly rod-shaped chromosomes with varying arm ratios and others were so small that we could not determine their structure.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
75
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
191-4
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:3469138-Abnormalities, Multiple,
pubmed-meshheading:3469138-Aneuploidy,
pubmed-meshheading:3469138-Child, Preschool,
pubmed-meshheading:3469138-Chromosome Banding,
pubmed-meshheading:3469138-Female,
pubmed-meshheading:3469138-Genetic Markers,
pubmed-meshheading:3469138-Genetic Variation,
pubmed-meshheading:3469138-Humans
|
| pubmed:year |
1987
|
| pubmed:articleTitle |
A patient with extreme variation in number and size of small marker chromosomes.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|