Linked Life Data

6974530

Source:http://linkedlifedata.com/resource/pubmed/id/6974530

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1981-11-22
pubmed:abstractText
A 2-year-old girl with a ring of chromosome 11[46,XX,r(11)(p15q25)] was reported. Her clinical features included growth and psychomotor retardation, microbrachycephaly, hypertelorism, strabismus externus, short nose, low nasal bridge, low-set ears, microretrognathism, short neck, small opening of vagina with large clitoris, deformity of nails, café-au-lait spot of the skin, general hirsutism, congenital heart disease, generalized convulsions, and pancytopenia. Most of these features are those characteristic of the 11q- syndrome. The fact that the patients with the deletion distal from q22 (reported cases) to q25 (our case) had a common phenotype suggests that the loss of the q25 leads to qter segment is mainly responsible for the characteristic clinical features of the 11q- syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
172-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome.
pubmed:publicationType
Journal Article, Case Reports