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

By Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao and Juan Clinton Llerena Junior


Background: 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. Results: 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. Discussion: 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

Topics: Array-Comparative Genomic Hybridization, Fluorescence in Situ Hybridization, 2q22 Deletion Syndrome, Birth Defects, Hypospadia, Omphalocele, Severe Mental Retardation, Essential Hypertension, High Blood Pressure, Hibridiza????o de ??cido Nucleico, Hibridiza????o In Situ Fluorescente, Anormalidades Cong??nitas, Hipospadia, H??rnia Umbilical, Defici??ncia Intelectual, Hipertens??o, Press??o Arterial
Publisher: BioMed Central Ltd
Year: 2012
OAI identifier: oai:agregador.ibict.br.RI_FIOCRUZ:oai:localhost:icict/6005
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