Linked Life Data

18811697

Source:http://linkedlifedata.com/resource/pubmed/id/18811697

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-10-28
pubmed:abstractText
We report the identification of microdeletions of 16q11.2q12.2 by microarray-based comparative genomic hybridization (aCGH) in two individuals. The clinical features of these two individuals include hypotonia, gastroesophageal reflux, ear anomalies, and toe deformities. Other features include developmental delay, mental retardation, hypothyroidism, and seizures. The identification of common clinical features in these two individuals and those of one other report suggests microdeletion of 16q12.1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1399-0004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
469-75
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
pubmed:affiliation
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA. ballif@signaturegenomics.com
pubmed:publicationType
Journal Article, Case Reports