7p Duplication Syndrome Phenotype: Genes to cognition, behavior to proteins

INTRODUCTION: The phenotype of pure 7p duplication syndrome is not yet fully characterized. Few studies only address laconically its cardiac and neurodevelopmental dimensions. However, the (a) cognitive-behavioral and (b) molecular dimensions of the syndrome are not classified.

AIMS AND FRAMEWORK: This case study evaluates monozygotic twin sisters (Ω and ß) with a 7p duplication syndrome phenotype, clinically, with a global developmental disorder, mild ventriculomegaly, and macrocephaly, na atrioventricular shunt, and distinct craniofacial morphological characteristics. The karyotype, via array-CGH, showed an unbalanced chromosome translocation: a terminal duplication (56.3 Mb) of the short arm of chromosome 7 (7p22.3p11.2 – partial trisomy of the 7).

CONCLUSION: The clinical correlation of both cognitive and molecular dimensions presented as a singular and distinct phenotype, which should be further explored and quantified. Capillary electrophoresis and multiplexed simultaneous immunodetection mixed analysis are an adequate solution. This methodology may prove appropriate in probing into neurodevelopmental disorders, such as 7p duplication syndrome.

APA: Martins, J. E., Myers, C., Sperdin, H.F., Schaer, M., Eliez, S (2019). 7p Duplication Syndrome Phenotype: Genes to cognition, behavior to proteins (ID7171). PSY-Kongress 2019, SSPPEA, Bern, September