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Article

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.

Journal of medical genetics - 1 Dec 2018

Yeung Kit San, Ho Matthew Sai Pong, Lee So Lun, Kan Anita Sik Yau, Chan Kelvin Yuen Kwong, Tang Mary Hoi Yin, Mak Christopher Chun Yu, Leung Gordon Ka Chun, So Po Lam, Pfundt Rolph, Marshall Christian R, Scherer Stephen W, Choufani Sanaa, Weksberg Rosanna, Hon-Yin Chung Brian

Abstract excerpt

BACKGROUND: We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparental disomy for chromosome 19 (UPD19). METHODS: Whole-exome sequencing, together with...

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Identifiers

PMID: 30007940
DOI: 10.1136/jmedgenet-2018-105328

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PEG3
ZIM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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