%0 Journal Article
%T Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
%A Milene Vianna Mulatinho
%A Cassio Luiz de Carvalho Serao
%A Fernanda Scalco
%A David Hardekopf
%A Sona Pekova
%A Kristin Mrasek
%A Thomas Liehr
%A Anja Weise
%A Nagesh Rao
%A Juan Clinton Llerena
%J Molecular Cytogenetics
%D 2012
%I BioMed Central
%R 10.1186/1755-8166-5-30
%X Our index case exhibited a de novo chromosomal abnormality at 2q22 [del(2)(q22.1q22.3)dn] which was not visible at the 550 haploid band level. The deleted region includes eight genes: HNMT, SPOPL, NXPH2, LOC64702, LRP1B, KYNU, ARHGAP15 and GTDC1.aCGH revealed an£¿~£¿6£¿Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical case associated with intellectual disability, congenital malformations and autism spectrum disorder. Interestingly, the deletion is co-localized with a fragile site (FRA2K), which could be involved in the formation of this chromosomal aberration. Further studies are needed to determine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome.
%K Array-comparative genomic hybridization (aCGH)
%K Fluorescence in situ hybridization (FISH)
%K 2q22 deletion syndrome
%K Birth defects
%K Hypospadia
%K omphalocele
%K Severe mental retardation
%K Essential hypertension
%K High blood pressure
%U http://www.molecularcytogenetics.org/content/5/1/30/abstract