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Article

Prenatal diagnosis and genetic counselling of a de-novo 11p13p11.2 duplication with normal phenotype.

Psychiatric genetics - 1 Oct 2025

Liu Xu, He Lan, Chai Yanting, Bian Xuna, Chen Chaoli

Abstract excerpt

BACKGROUND: Proximal 11p duplication is often derived from a balanced translocation in a parent or inherited from a carrier (father or mother) with normal phenotype, and part of this duplication is a de-novo mutation. The main clinical manifestations in carriers are: mental retardation, eye abnormalities such as abnormal optic nerve morphology, strabismus, hyperopia, nystagmus, and facial abnormalities such as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40658524
DOI: 10.1097/YPG.0000000000000399

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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