Linked Life Data

21206706

Source:http://linkedlifedata.com/resource/pubmed/id/21206706

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-1-5
pubmed:abstractText
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:status
PubMed-not-MEDLINE
pubmed:month
Sep
pubmed:issn
0971-6866
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
164-5
pubmed:dateRevised
2011-7-20
pubmed:year
2010
pubmed:articleTitle
A Sri Lankan child with 49,XXXXY syndrome.
pubmed:affiliation
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
pubmed:publicationType
Journal Article