Linked Life Data

19852431

Source:http://linkedlifedata.com/resource/pubmed/id/19852431

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-10-26
pubmed:abstractText
Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45, X/46, XY mosaicism. A seven-year-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
249-54
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Analysis of the SRY gene in a girl with 45,X/46,XY genotype.
pubmed:affiliation
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mersin, Turkey.
pubmed:publicationType
Journal Article