Linked Life Data

18076674

Source:http://linkedlifedata.com/resource/pubmed/id/18076674

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2008-1-17
pubmed:abstractText
We report two familial cases of 22q11.2 duplication detected using multiplex ligation-dependent probe amplification (MLPA). In the first case, eight individuals from a three-generation family were found to carry a 3-Mb 22q11.2 duplication. The individuals carrying the duplication show phenotypic variation. This phenotypic variation includes heart defect (1 in 8 individuals, 1/8), submucous cleft palate (2/8), intellectual disability (2/8), speech delay (2/8), behaviour problems (3/8) and brachydactyly (3/8). In the second case, a 1.5-Mb 22q11.2 duplication was detected in a neonate and her normal mother. The neonate presented with severe laryngomalacia causing intermittent stridor. Cranial ultrasound showed small subependymal cysts bilaterally. There was no heart defect or cleft palate, her chest X ray and renal ultrasound were normal. Review at 2 months of age revealed normal growth and development. Our findings broaden the understanding of 22q11.2 duplication syndrome and demonstrate that MLPA is sensitive for detection and sizing of 22q11.2 microduplications.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1399-0004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
160-4
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.
pubmed:affiliation
Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sui.yu@adelaide.edu.au
pubmed:publicationType
Journal Article, Case Reports