Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1983-10-8
|
pubmed:abstractText |
A new born male infant with craniostenosis and minor phenotypic malformations was found to have a satellited Yq chromosome with, translocated on its satellite, a segment from the terminal part of the long arm of a presumed autosome 14. The rearrangement is de novo since the propositus' father has a non-rearranged satellited Y chromosome and he is, furthermore, a member of a family line in which a Yqs is transmitted in patrilineary fashion since 1668. Such and autosomal translocation on a satellited Y chromosome is a very rare event, because the abnormality makes up a double rearrangement on the same arm of a chromosome, with a three-century interval between the two phenomenons. A presumed partial trisomy 14q is associated with the clinical picture of the case.
|
pubmed:language |
fre
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:issn |
0003-3995
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
26
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
86-90
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:6604491-Craniosynostoses,
pubmed-meshheading:6604491-Dermatoglyphics,
pubmed-meshheading:6604491-Humans,
pubmed-meshheading:6604491-Infant, Newborn,
pubmed-meshheading:6604491-Karyotyping,
pubmed-meshheading:6604491-Male,
pubmed-meshheading:6604491-Pedigree,
pubmed-meshheading:6604491-Phenotype,
pubmed-meshheading:6604491-Sex Chromosome Aberrations,
pubmed-meshheading:6604491-Translocation, Genetic,
pubmed-meshheading:6604491-Trisomy,
pubmed-meshheading:6604491-Y Chromosome
|
pubmed:year |
1983
|
pubmed:articleTitle |
[Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome].
|
pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|