Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord

Molecular Cytogenetics

Valeria Capra¹  Maria Luisa Garrè¹  Armando Cama¹  Andrea Rossi¹  Marco Pavanello¹  Claudia Milanaccio¹  Elisa Merello¹  Patrizia De Marco¹  Giovanni Morana¹  Elisa Tassano¹  Paolo Nozza¹  Alessandro Raso¹  Mariasavina Severino¹  Samantha Mascelli¹ 

[1]Istituto Giannina Gaslini, via G. Gaslini 5, 16147 Genoa, Italy

关键词: 22q11.2 deletion;    15q duplication;    Semicircular canal dysplasia;    Spinal cord;    Pilocytic astrocytoma;   

Others  :  1150112
DOI  :  10.1186/1755-8166-7-31

 received in 2014-02-07, accepted in 2014-04-28,  发布年份 2014

【 摘 要 】

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition.

Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.

【 授权许可】

   
2014 Mascelli et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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