Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

BMC Medical Genetics

Patrick Edery¹  Damien Sanlaville⁴  Alice Poisson³  Brice Martin²  Gabrielle Chesnoy-Servanin³  Massimiliano Rossi¹  Caroline Demily³ 

[1] Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France;Service Universitaire de Réhabilitation, Centre Hospitalier le Vinatier, Bron, France;Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Lyon 1), Lyon, France;Hospices Civils de Lyon, service de génétique, centre de référence des anomalies du développement, laboratoire de cytogénétique, GHE, Lyon, France

关键词: Copy number variants;    Trisomy;    Chromosomal abnormalities;    Neurodevelopment;    Duplication;    Social communication disorder;    Autism;    Genetics;   

Others  :  1090113
DOI  :  10.1186/s12881-014-0132-3

 received in 2014-07-21, accepted in 2014-12-02,  发布年份 2014

【 摘 要 】

Background

Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenotypes with Social Communication Disorder (SCD), may contribute to improve knowledge about the distinction between intellectual deficiency and autism spectrum disorders.

Case presentation

We report the clinical and cytogenetic characterization of a patient (male, 33 years-old, first child of healthy Portuguese non-consanguineous parents) presenting with a complex phenotype including SCD without intellectual deficiency and carrying a mosaic supernumerary ring chromosome 19p. Microarray-Based Comparative Genomic Hybridization and Fluorescence in situ Hybridization were performed. Genetic analysis showed a large mosaic interstitial duplication 19p13.12p12 of the short arm of chromosome 19, spanning 8.35 Mb. Our data suggested a putative association between psychosocial dysfunction and mosaic pure trisomy 19p13.2p12.

Conclusion

This clinical report demonstrated the need to analyze more discreet trait-based subsets of complex phenotypes to improve the ability to detect genetic effects. To address this question and the broader issue of deciphering the yet unknown genetic contributors to complex phenotype with SCD, we suggest performing systematic psychological and psychiatric assessments in patients with chromosomal abnormalities.

【 授权许可】

   
2014 Demily et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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