|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0023866,
umls-concept:C0040715,
umls-concept:C0282443,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0678226,
umls-concept:C0680063,
umls-concept:C0795861,
umls-concept:C0810062,
umls-concept:C1419782,
umls-concept:C1522702,
umls-concept:C1549863,
umls-concept:C1552617,
umls-concept:C1858460
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1992-7-16
|
|
pubmed:abstractText |
We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.
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|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0148-7299
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
1
|
|
pubmed:volume |
43
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
621-5
|
|
pubmed:dateRevised |
2005-11-16
|
|
pubmed:meshHeading |
pubmed-meshheading:1605261-Abnormalities, Multiple,
pubmed-meshheading:1605261-Chromosomes, Human, Pair 16,
pubmed-meshheading:1605261-Chromosomes, Human, Pair 21,
pubmed-meshheading:1605261-Female,
pubmed-meshheading:1605261-Humans,
pubmed-meshheading:1605261-Infant, Newborn,
pubmed-meshheading:1605261-Translocation, Genetic,
pubmed-meshheading:1605261-Trisomy
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.
|
|
pubmed:affiliation |
Laboratoire de Cytogénétique, CHU Bicêtre, Paris, France.
|
|
pubmed:publicationType |
Journal Article,
Review,
Case Reports
|
