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Array-CGH analysis of a patient with triphalangeal thumb-polysyndactyly syndrome combined with a complex congenital heart defect and optic disc coloboma

ABSTRACT: In this study we report on a rare neonatal case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) combined with a severe congenital heart disease, namely double outlet right ventricle (DORV), and microphthalmia with optic disc coloboma. High-resolution array-CGH revealed a ~ 299 kb microduplication of 7q36.3 locus encompassing a long-range sonic hedgehog (SHH) regulatory sequence (ZRS).

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Almazov National Medical Research Centre, Institute of Molecular Biology and Genetics

PROVIDER: PRJEB32845 | EVA | 2019-06-03

REPOSITORIES: EVA

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