Linked Life Data

3490426

Source:http://linkedlifedata.com/resource/pubmed/id/3490426

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1986-11-25
pubmed:abstractText
A 10-month-old Japanese boy who had interstitial deletion of the long arm of chromosome No. 14; 46,XY, del(14)(pter----q24.3: :q32.1----qter) is reported. A peculiar facial appearance, including round face, frontal hypertrichosis with thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat nasal root, and mild micrognathia, appeared to be common with the two previously reported cases. We stress the significance of this peculiar facial appearance in the diagnosis of 14q-(q24.3 to q32.1) syndrome. The level of alpha 1-antitrypsin in the patient was only about half of that of his parents and controls, and the Pi locus was tentatively assigned to band 14q32.1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
190-2
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).
pubmed:publicationType
Journal Article, Case Reports