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

Milene Vianna Mulatinho1, Cassio Luiz de Carvalho Serao2, Fernanda Scalco3, David Hardekopf4, Sona Pekova4, Kristin Mrasek5, Thomas Liehr5, Anja Weise5, Nagesh Rao6 and Juan Clinton Llerena1*

Author Affiliations

1 Instituto Fernandes Figueira, IFF/FIOCRUZ, Departamento de Genética Médica, Av. Rui Barbosa, 716. Flamengo, Rio de Janeiro, RJ 22250-020, Brazil

2 Faculdade de Ciências Médicas, Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, UERJ, Rio de Janeiro, RJ, Brazil

3 Laboratório de Erros Inatos do Metabolismo, Departamento de Bioquímica, Instituto de Quimica, Universidade Federal do Rio de Janeiro, UFRJ, Rio de Janeiro, RJ, Brazil

4 Chambon Laboratory for Molecular Diagnostics (member of the Synlab Czech laboratory group), Prague, Czech Republic

5 Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany

6 Department of Pathology and Lab Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

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Molecular Cytogenetics 2012, 5:30  doi:10.1186/1755-8166-5-30

Published: 11 June 2012



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 report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure. An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH.


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.

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