Linked Life Data

16052867

Source:http://linkedlifedata.com/resource/pubmed/id/16052867

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-8-1
pubmed:abstractText
An unusual case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation who had mild speech delay and normal motor development is presented. A 3.5-year-old boy with complaints of speech delay, open mouth and drooling saliva was the child of a 33-year-old healthy mother and 35-year-old nonconsangineous father with unremarkable prenatal history. Beside delayed speech, hyperactive movements, flat nasal bridge, prominent ears, micrognathia, hypotonia, and overriding of left 3rd the on 2nd toe were present. Cytogenetic studies revealed de novo 45,XY del (18) t(18;21)-21 karyotype, which was confirmed by fluorescence in situ hybridization (FISH).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0041-4301
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
199-201
pubmed:meshHeading
pubmed:articleTitle
An unusual case of monosomy 18p: minor malformations with speech delay.
pubmed:affiliation
Divisions of Genetics, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
pubmed:publicationType
Journal Article, Case Reports