Statements in which the resource exists as a subject.
PredicateObject
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: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