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Chromosomal mosaicism due to mitotic instability

MedGen UID:
419789
•Concept ID:
C2931383
•
Cell or Molecular Dysfunction

Professional guidelines

PubMed

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
Levy B, Hoffmann ER, McCoy RC, Grati FR
Prenat Diagn 2021 Apr;41(5):631-641. Epub 2021 Mar 22 doi: 10.1002/pd.5931. PMID: 33720449Free PMC Article

Recent clinical studies

Etiology

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
Levy B, Hoffmann ER, McCoy RC, Grati FR
Prenat Diagn 2021 Apr;41(5):631-641. Epub 2021 Mar 22 doi: 10.1002/pd.5931. PMID: 33720449Free PMC Article
Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.
Akutsu SN, Fujita K, Tomioka K, Miyamoto T, Matsuura S
Cells 2020 Jan 17;9(1) doi: 10.3390/cells9010239. PMID: 31963583Free PMC Article
A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.
Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY
Ann Clin Lab Sci 2015 Winter;45(1):106-9. PMID: 25696020
The detection of mosaicism by prenatal BoBs™.
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997
Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.
Wijshake T, Malureanu LA, Baker DJ, Jeganathan KB, van de Sluis B, van Deursen JM
PLoS Genet 2012;8(12):e1003138. Epub 2012 Dec 27 doi: 10.1371/journal.pgen.1003138. PMID: 23300461Free PMC Article

Diagnosis

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
Levy B, Hoffmann ER, McCoy RC, Grati FR
Prenat Diagn 2021 Apr;41(5):631-641. Epub 2021 Mar 22 doi: 10.1002/pd.5931. PMID: 33720449Free PMC Article
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.
Hook EB, Warburton D
Hum Genet 2014 Apr;133(4):417-24. Epub 2014 Jan 30 doi: 10.1007/s00439-014-1420-x. PMID: 24477775
The detection of mosaicism by prenatal BoBs™.
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997
Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage.
Chavez SL, Loewke KE, Han J, Moussavi F, Colls P, Munne S, Behr B, Reijo Pera RA
Nat Commun 2012;3:1251. doi: 10.1038/ncomms2249. PMID: 23212380Free PMC Article
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.
Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F
Am J Med Genet A 2005 Aug 30;137(2):204-7. doi: 10.1002/ajmg.a.30783. PMID: 16059936

Therapy

Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy.
Nishitani-Isa M, Hiraumi Y, Nishida Y, Usami I, Maihara T
Pediatr Int 2019 Jun;61(6):613-616. Epub 2019 Jun 11 doi: 10.1111/ped.13849. PMID: 31184400
The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans.
Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK
Hum Reprod Update 2014 Jul-Aug;20(4):571-81. Epub 2014 Mar 25 doi: 10.1093/humupd/dmu016. PMID: 24667481
Male-mediated developmental toxicity.
Anderson D, Schmid TE, Baumgartner A
Asian J Androl 2014 Jan-Feb;16(1):81-8. doi: 10.4103/1008-682X.122342. PMID: 24369136Free PMC Article
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
The influence of target population on nonculture-based detection of markers of Neisseria gonorrhoeae antimicrobial resistance.
Goire N, Freeman K, Lambert SB, Nimmo GR, Limnios AE, Lahra MM, Nissen MD, Sloots TP, Whiley DM
Sex Health 2012 Nov;9(5):422-9. doi: 10.1071/SH12026. PMID: 23036167

Prognosis

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.
Esposito M, Sessa F, Nannola C, Pignotti MS, Greco P, Salerno M
Int J Legal Med 2024 Sep;138(5):2049-2055. Epub 2024 Apr 26 doi: 10.1007/s00414-024-03231-1. PMID: 38664248Free PMC Article
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652Free PMC Article
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A
Am J Med Genet 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. PMID: 11932988

Clinical prediction guides

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612
The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D
Nat Commun 2019 Feb 25;10(1):931. doi: 10.1038/s41467-019-08862-2. PMID: 30804344Free PMC Article
Whole chromosome gain does not in itself confer cancer-like chromosomal instability.
Valind A, Jin Y, Baldetorp B, Gisselsson D
Proc Natl Acad Sci U S A 2013 Dec 24;110(52):21119-23. Epub 2013 Dec 9 doi: 10.1073/pnas.1311163110. PMID: 24324169Free PMC Article
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652Free PMC Article
Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage.
Chavez SL, Loewke KE, Han J, Moussavi F, Colls P, Munne S, Behr B, Reijo Pera RA
Nat Commun 2012;3:1251. doi: 10.1038/ncomms2249. PMID: 23212380Free PMC Article

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