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Variable degree of ...
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
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- Rydzanicz, Malgorzata (författare)
- Med Univ Warsaw, Dept Med Genet, Warsaw, Poland.
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- Olszewski, Pawel (författare)
- Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, Int Res Agendas Programme, 3P Med Lab, Gdansk, Poland.
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- Kedra, Darek (författare)
- Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, Int Res Agendas Programme, 3P Med Lab, Gdansk, Poland.
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- Davies, Hanna (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin
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- Filipowicz, Natalia (författare)
- Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, Int Res Agendas Programme, 3P Med Lab, Gdansk, Poland.
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- Bruhn-Olszewska, Bozena (författare)
- Uppsala universitet,Cancerprecisionsmedicin,Science for Life Laboratory, SciLifeLab
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- Cavalli, Marco (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi
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- Szczaluba, Krzysztof (författare)
- Med Univ Warsaw, Dept Med Genet, Warsaw, Poland.
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- Mlynek, Marlena (författare)
- Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland.
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- Machnicki, Marcin M. (författare)
- Med Univ Warsaw, Dept Immunol, Warsaw, Poland.;Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland.
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Stawinski, Piotr (författare)
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- Kostrzewa, Grazyna (författare)
- Med Univ Warsaw, Dept Forens Med, Warsaw, Poland.
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- Krajewski, Pawel (författare)
- Med Univ Warsaw, Dept Forens Med, Warsaw, Poland.
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- Sladowski, Dariusz (författare)
- Med Univ Warsaw, Dept Transplantol, Warsaw, Poland.;Med Univ Warsaw, Cent Tissue Bank, Ctr Biostruct, Warsaw, Poland.
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- Chrzanowska, Krystyna (författare)
- Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland.
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- Dumanski, Jan P. (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, Int Res Agendas Programme, 3P Med Lab, Gdansk, Poland.
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- Ploski, Rafal (författare)
- Med Univ Warsaw, Dept Med Genet, Warsaw, Poland.
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Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, Int Res Agendas Programme, 3P Med Lab, Gdansk, Poland. (creator_code:org_t)
- 2020-12-14
- 2021
- Engelska.
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Ingår i: Molecular Genetics & Genomic Medicine. - : Wiley-Blackwell. - 2324-9269. ; 9:1
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://onlinelibrar...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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 (blood, skin, hair follicles, and buccal mucosa) from both twins were studied using four complementary methods, including whole-exome sequencing, karyotyping, array CGH, and SNP array.Results: In the proband, tetrasomy 18p affecting all studied tissues except for blood was identified. Karyotyping of fibroblasts revealed isochromosome 18p [i(18p)] in all metaphases. The corresponding analysis of the phenotypically normal sister surprisingly revealed low-level mosaicism (5.4%) for i(18p) in fibroblasts.Conclusion: We emphasize that when mosaicism is suspected, multiple tissues should be studied and we highlight the usefulness of non-invasive sampling of hair follicles and buccal mucosa as a convenient source of non-mesoderm-derived DNA, which complements the analysis of mesoderm using blood. Moreover, low-level mosaic tetrasomy 18p is well tolerated and such low-level mosaicism, readily detected by karyotyping, can be missed by other methods. Finally, mosaicism for low-level tetrasomy 18p might be more common in the general population than it is currently recognized, due to detection limitations.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- copy number variants
- phenotypically-discordant monozygotic twins
- post-zygotic mutations
- somatic chromosomal mosaicism
- tetrasomy 18p
- whole-exome sequencing
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Rydzanicz, Malgo ...
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Olszewski, Pawel
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Kedra, Darek
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Davies, Hanna
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Filipowicz, Nata ...
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Bruhn-Olszewska, ...
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Cavalli, Marco
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Szczaluba, Krzys ...
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Mlynek, Marlena
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Machnicki, Marci ...
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Stawinski, Piotr
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Kostrzewa, Grazy ...
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Krajewski, Pawel
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Sladowski, Dariu ...
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Chrzanowska, Kry ...
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Dumanski, Jan P.
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Ploski, Rafal
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