Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

KE Miller, AC Rivaldi, N Shinagawa, S Sran… - Nature …, 2023 - nature.com
… , including developmental brain malformations and epilepsy. Brain mosaicism is traditionally
… -zygotic rescue of meiotic errors as an alternate origin of brain mosaicism in patients with …

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

TH Taylor, SA Gitlin, JL Patrick, JL Crain… - Human reproduction …, 2014 - academic.oup.com
… Confined mosaicism has been reported in the brain, gonads and placenta, amongst … meiotic
error or a very early mitotic error will typically lead to general mosaicism while a mitotic error

Aneuploidy and confined chromosomal mosaicism in the developing human brain

YB Yurov, IY Iourov, SG Vorsanova, T Liehr, AD Kolotii… - PloS one, 2007 - journals.plos.org
… Aneuploidy arisen from meiotic errors is the leading genetic cause of morbidity and
mortality in humans [5]. A cascade of abnormal mitotic divisions accompanied by formation of …

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies

RE Ensenauer, WJ Shaughnessy… - American Journal of …, 2005 - Wiley Online Library
… of trisomy 20 mosaicism. … mosaicism was documented in the patient's skin fibroblast and
buccal cells, and the extra chromosome 20 was shown to result from a maternal meiosis II error

Chromosomal mosaicism goes global

IY Iourov, SG Vorsanova, YB Yurov - Molecular cytogenetics, 2008 - Springer
mosaicism confines to the developing human brain in a … in the developing human brain is an
integral component of … (including those that arise due to meiotic errors), as exemplified by M. …

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

C Robberecht, T Voet, GE Utine, A Schinzel… - Molecular …, 2012 - Springer
mosaicism appears to be variable amongst different tissues: chromosomal aneuploidies
were detected in approximately 10% of normal human brain … from meiotic errors followed by …

The consequences of chromosome segregation errors in mitosis and meiosis

T Potapova, GJ Gorbsky - Biology, 2017 - mdpi.com
… This review describes the consequences of mitotic and meiotic errors focusing on novel …
meiotic errors. These can be benign or severe, depending on the degree and nature of the error, …

De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
… /pre-natal somatic mosaicism, which is present in nonbrain and brain tissues, occurs early …
errors may be as extreme as meiotic errors depending on their time of occurrence. Mosaicism

Chromosome instability and mosaic aneuploidy in neurodegenerative and neurodevelopmental disorders

H Potter, HJ Chial, J Caneus, M Elos, N Elder… - Frontiers in …, 2019 - frontiersin.org
… that trisomy 21 mosaicism occurs in many tissues in AD patients, including in the brain, is …
to increase the risk of meiosis II chromosome segregation errors, leading to Down syndrome, …

Mosaicism and clinical genetics

NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
… reveals just how common chromosomal errors are, and provides an … either during
gametogenesis, meiosis, or during mitosis … to obtain brain tissue from individuals with a variety of …