Linked Life Data

19617372

Source:http://linkedlifedata.com/resource/pubmed/id/19617372

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-10-21
pubmed:databankReference
pubmed:abstractText
Testicular regression syndrome (MIM273250) is characterized primarily by absence of gonads in a person of XY karyotype. Phenotypes range from complete female external genitalia (primary or "true" agonadism) to male phenotype with anorchia (testicular regression). Phenotypic differences depend on the stage of embryo development during which testes degenerate. No conclusive mapping can be concluded for the phenotype. We describe a novel case of primary agonadism with a karyotype of 46,X,der(Y)(pter-->q11.23::pter-->p11.31 or p11.2:). Transcriptional analysis revealed little expression of USP9Y and UTY genes on the Y chromosome in our case, which would explain her phenotypes of agonadism with short stature.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1939-4640
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
650-4
pubmed:meshHeading
pubmed:articleTitle
A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies.
pubmed:affiliation
Department of Reproduction, Jinling Hospital, Nanjing University School of Medicine, Nanjing, PR China.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't