Cargando…

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

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 retard...

Descripción completa

Detalles Bibliográficos
Autores principales: Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Juan Clinton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407782/
https://www.ncbi.nlm.nih.gov/pubmed/22686481
http://dx.doi.org/10.1186/1755-8166-5-30
_version_ 1782239390254235648
author Mulatinho, Milene Vianna
de Carvalho Serao, Cassio Luiz
Scalco, Fernanda
Hardekopf, David
Pekova, Sona
Mrasek, Kristin
Liehr, Thomas
Weise, Anja
Rao, Nagesh
Llerena, Juan Clinton
author_facet Mulatinho, Milene Vianna
de Carvalho Serao, Cassio Luiz
Scalco, Fernanda
Hardekopf, David
Pekova, Sona
Mrasek, Kristin
Liehr, Thomas
Weise, Anja
Rao, Nagesh
Llerena, Juan Clinton
author_sort Mulatinho, Milene Vianna
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3407782
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-34077822012-07-30 Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report Mulatinho, Milene Vianna de Carvalho Serao, Cassio Luiz Scalco, Fernanda Hardekopf, David Pekova, Sona Mrasek, Kristin Liehr, Thomas Weise, Anja Rao, Nagesh Llerena, Juan Clinton Mol Cytogenet Case Report 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. BioMed Central 2012-06-11 /pmc/articles/PMC3407782/ /pubmed/22686481 http://dx.doi.org/10.1186/1755-8166-5-30 Text en Copyright ©2012 Mulatinho et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mulatinho, Milene Vianna
de Carvalho Serao, Cassio Luiz
Scalco, Fernanda
Hardekopf, David
Pekova, Sona
Mrasek, Kristin
Liehr, Thomas
Weise, Anja
Rao, Nagesh
Llerena, Juan Clinton
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title_full Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title_fullStr Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title_full_unstemmed Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title_short Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
title_sort severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407782/
https://www.ncbi.nlm.nih.gov/pubmed/22686481
http://dx.doi.org/10.1186/1755-8166-5-30
work_keys_str_mv AT mulatinhomilenevianna severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT decarvalhoseraocassioluiz severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT scalcofernanda severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT hardekopfdavid severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT pekovasona severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT mrasekkristin severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT liehrthomas severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT weiseanja severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT raonagesh severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport
AT llerenajuanclinton severeintellectualdisabilityomphalocelehypospadiaandhighbloodpressureassociatedtoadeletionat2q221q223casereport