Article

Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome

2022-11-18

Abstract excerpt

Uniparental disomy (UPD) has been associated with several well-characterized disorders due to abnormal imprinting of the underlying genes. Depending on the parent-of-origin, paternal and maternal UPD are frequently associated with clinically distinct imprinting disorders. Here we report a neonatal case that was referred to Greenwood Genetic Center for clinical genetic testing. Prenatal ultrasound identified polyhy...

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Literature Corpus work: f80df78e-bfbc-5c1b-af8a-c22b70046037
DOI: 10.21203/rs.3.rs-2251362/v1

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