A genomic view of mosaicism and human disease
LG Biesecker, NB Spinner - Nature Reviews Genetics, 2013 - nature.com
Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …
[HTML][HTML] Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
AM Gross, SS Ajay, V Rajan, C Brown, K Bluske… - Genetics in …, 2019 - Elsevier
Purpose Current diagnostic testing for genetic disorders involves serial use of specialized
assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all …
assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all …
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several
well-defined genetic syndromes as well as contribute to phenotypic variation in diseases …
well-defined genetic syndromes as well as contribute to phenotypic variation in diseases …
De novo unbalanced translocations have a complex history/aetiology
We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally
deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal …
deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal …
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
NV Kovaleva, PD Cotter - Molecular Cytogenetics, 2016 - Springer
Background Mosaicism for chromosomal structural rearrangements (Rea) is rare and the
timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation …
timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation …
Low-level mosaicism of a de novo derivative chromosome 9 from at (5; 9)(q35. 1; q34. 3) has a major phenotypic impact
B Hervé, J Roume, S Cognard, D Fauvert… - European Journal of …, 2015 - Elsevier
Microdeletion and microduplication syndromes are well-known causes of developmental
delay and/or malformations of differing severity. Although homogeneous abnormalities can …
delay and/or malformations of differing severity. Although homogeneous abnormalities can …
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in …
M Blanluet, S Chantot‐Bastaraud… - American Journal of …, 2021 - Wiley Online Library
Balanced translocations are associated with a risk of transmission of unbalanced
chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities …
chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities …
Characterization of a rare mosaic unbalanced translocation of t (3; 12) in a patient with neurodevelopmental disorders
X Hu, EK Baker, J Johnson, S Balow, LDM Pena… - Molecular …, 2022 - Springer
Background Unbalanced translocations may be de novo or inherited from one parent
carrying the balanced form and are usually present in all cells. Mosaic unbalanced …
carrying the balanced form and are usually present in all cells. Mosaic unbalanced …
Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
AM Gross, SS Ajay, V Rajan, C Brown, K Bluske… - bioRxiv, 2018 - biorxiv.org
Purpose Current diagnostic testing for genetic disorders involves serial use of specialized
assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has …
assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has …
[HTML][HTML] Characterization of a rare mosaicism in autosomal translocation of t (5; 21) using conventional cytogenetics and FISH methods
SO Sarabi, JK Hagh, C Behrend… - Iranian Biomedical …, 2020 - ncbi.nlm.nih.gov
Background: Mosaicism of a normal cell population and an unbalanced autosomal
chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor …
chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor …