Linked Life Data

15627746

Source:http://linkedlifedata.com/resource/pubmed/id/15627746

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-1-3
pubmed:abstractText
We report on a girl with severe mental and psychomotor retardation caused by an unusual, unbalanced translocation t(14;15) of maternal origin. The unbalanced translocation in the patient resulted in trisomy 14pter-->q13 and monosomy 15pter-->q11.2. In addition to common features described in other patients with small proximal trisomies of chromosome 14, our patient presented with hypopigmented skin with light hair and eye color and severe speech impairment. Therefore the phenotype of the girl shows few similarities to that of Angelman syndrome patients, although the breakpoint in chromosome 15 in our patient was found to be proximal to the PWS/AS region.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1424-859X
pubmed:author
pubmed:copyrightInfo
Copyright 2005 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
108
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
283-6
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
pubmed:affiliation
Institute of Human Genetics, University of Magdeburg, Magdeburg, Germany.
pubmed:publicationType
Journal Article, Case Reports