Linked Life Data

11477611

Source:http://linkedlifedata.com/resource/pubmed/id/11477611

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2001-7-30
pubmed:abstractText
A 12-year 9-month-old boy with postnatal growth retardation, normal psychomotor development, and minor anomalies that included a triangular-shaped face, small nose, and narrow and high-arched palate is reported. The constitutional karyotype was 46,XY,i(7)(p10),i(7)(q10). Molecular investigations revealed the presence of a maternal isodisomy 7q and a paternal isodisomy 7p. The clinical and molecular findings are notably congruent with a recently reported case and support the hypothesis of one or more maternally imprinted genes located on the long arm of chromosomes 7 that regulate, in particular, postnatal growth.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-72
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation.
pubmed:affiliation
Institute for Human Genetics, University of Leipzig, Leipzig, Germany.
pubmed:publicationType
Journal Article, Case Reports