Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

<p>Abstract</p> <p>Background</p> <p>Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we repo...

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Bibliographic Details
Main Authors: Mulatinho Milene, de Carvalho Serao Cassio, Scalco Fernanda, Hardekopf David, Pekova Sona, Mrasek Kristin, Liehr Thomas, Weise Anja, Rao Nagesh, Llerena Juan
Format: Article
Language:English
Published: BMC 2012-06-01
Series:Molecular Cytogenetics
Subjects:
Array-comparative genomic hybridization (aCGH)
Fluorescence in situ hybridization (FISH)
2q22 deletion syndrome
Birth defects
Hypospadia
omphalocele
Severe mental retardation
Essential hypertension
High blood pressure
Online Access:http://www.molecularcytogenetics.org/content/5/1/30

Internet

http://www.molecularcytogenetics.org/content/5/1/30

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