Article
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Molecular genetics & genomic medicine - 1 Jan 2021
Rydzanicz Małgorzata, Olszewski Pawel, Kedra Darek, Davies Hanna, Filipowicz Natalia, Bruhn-Olszewska Bozena, Cavalli Marco, Szczałuba Krzysztof, Młynek Marlena, Machnicki Marcin M, Stawiński Piotr, Kostrzewa Grażyna, Krajewski Paweł, Śladowski Dariusz, Chrzanowska Krystyna, Dumanski Jan P, Płoski Rafał
Abstract excerpt
BACKGROUND: Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post-zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of PDMZTs. METHODS: Dysmorphic features and delayed neuro-motor development were observed in the proband, whereas her twin sister was phenotypically normal. Four tissues...
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