|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
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|
pubmed:dateCreated |
2009-9-14
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|
pubmed:abstractText |
The 22q11.2 deletion syndrome nowadays is considered one of the most often observed genetic diseases in humans. It is clinically characterized by a rather wide phenotypic spectrum, with more than 180 clinical features physical as well as behavioral, already described. However, none is pathognomonic or obligatory which makes diagnosis even more difficult. Thus, this study intended to determine the prevalence and clinical characteristics of patients with 22q11.2 microdeletion in a selected sample of subjects with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype.
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|
pubmed:language |
por
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
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|
pubmed:issn |
0104-4230
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
55
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
442-6
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|
pubmed:meshHeading |
pubmed-meshheading:19750312-Adolescent,
pubmed-meshheading:19750312-Brazil,
pubmed-meshheading:19750312-Child,
pubmed-meshheading:19750312-Child, Preschool,
pubmed-meshheading:19750312-DiGeorge Syndrome,
pubmed-meshheading:19750312-Female,
pubmed-meshheading:19750312-Humans,
pubmed-meshheading:19750312-In Situ Hybridization, Fluorescence,
pubmed-meshheading:19750312-Infant,
pubmed-meshheading:19750312-Infant, Newborn,
pubmed-meshheading:19750312-Male,
pubmed-meshheading:19750312-Phenotype,
pubmed-meshheading:19750312-Prevalence
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|
pubmed:articleTitle |
[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].
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|
pubmed:affiliation |
Universidade Federal de Ciências da Saúde de Porto Alegre-UFCSPA, Porto Alegre, RS, Brazil.
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pubmed:publicationType |
Journal Article,
English Abstract
|
