A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
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2014-06
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Background: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification
of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability
has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual
disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally,
deletions of the 7qter region are associated with a range of phenotypes.
Results: We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at
Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any
chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q
partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3.
Conclusions: Our report illustrates a case that presents complex genomic imbalances which may contribute to a
severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and
allow the phenotypes classification.
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Intellectual disability, CMA, 18q partial trisomy, Microdeletion, Microduplication, Mosaicism
Citação
PINTO, Irene Plaza; MINASI, Lysa Bernardes; CRUZ, Alex Silva da; MELO, Aldaires Vieira de; CUNHA, Damiana Míriam da Cruz e; PEREIRA, Rodrigo Roncato; RIBEIRO, Cristiano Luiz; SILVA, Cláudio Carlos da; SILVA, Daniela de Melo e; CRUZ, Aparecido Divino da. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. Molecular Cytogenetics, London, v. 7, e44, Jun. 2014.