Linked Life Data

19921651

Source:http://linkedlifedata.com/resource/pubmed/id/19921651

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2009-11-30
pubmed:abstractText
The identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage variation of P2RX2. To our knowledge, these are the first published cases reporting this subtype of (Y;12) translocation, in both balanced and unbalanced states.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
149A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2820-3
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.
pubmed:affiliation
Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't