Email updates

Keep up to date with the latest news and content from Molecular Cytogenetics and BioMed Central.

Open Access Highly Accessed Case report

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

For all author emails, please log on.

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