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MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
BackgroundGermline mosaicisms could be inherited to offspring, which considered as “ de novo ” in most cases. Paternal germline MECP2 mosaicism has...
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Mosaicism in Human Skin Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia
This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was...
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The morphokinetic signature of human blastocysts with mosaicism and the clinical outcomes following transfer of embryos with low-level mosaicism
BackgroundGenetic mosaicism is commonly observed in human blastocysts. Embryos’ morphokinetic feature observed from time-lapse monitoring (TLM) is...
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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
BackgroundOptic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic...
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Embryo Culture Medium Has No Impact on Mosaicism Rates: a Sibling Oocyte Study
Human embryos cultured in vitro can contain two or more cytogenetically distinct cell lineages known as “chromosomal mosaicism”. Since mosaicism is...
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Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development
Aneuploidy is one of the main causes of miscarriage and in vitro fertilization failure. Mitotic abnormalities in preimplantation embryos are the main...
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To mask or not to mask mosaicism? The impact of reporting embryo mosaicism on reproductive potential
PurposeTo evaluate euploidy rates and probability of having at least one euploid embryo for transfer per cycle when mosaicism is reported compared to...
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PGT-A mosaicism based on NGS intermediate copy numbers: is it time to stop reporting them?
Mosaicism represents a genuine real phenomenon, but its high prevalence and undisclosed clinical significance, stress the burden on genetic...
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Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome
BackgroundMarfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic...
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Which type of chromosomal mosaicism is compatible for embryo transfer: a systematical review and meta-analysis
PurposeChromosomal mosaicism becomes a common phenomenon in Preimplantaion genetic testing (PGT). This meta-analysis was conducted to study which...
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The effect of trophectoderm biopsy technique and sample handling on artefactual mosaicism
PurposeTo determine whether embryo mosaicism prevalence in preimplantation genetic testing for aneuploidy (PGT-A) cycles is associated with the...
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Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
BackgroundIncontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG / NEMO gene. IP is mostly lethal in males...
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From contemplation to classification of chromosomal mosaicism in human preimplantation embryos
Chromosomal mosaicism is a hallmark of early human embryo development. The last decade yielded an enormous amount of information about diversity and...
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Clinical Implications of Mosaicism and Low-Level Mosaicism in Neurocutaneous Disorders
Purpose of ReviewAdvances in genetic testing technologies allow for deep sequencing with improved ability to diagnose neurocutaneous and other...
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GOPC-ROS1 mosaicism in agminated Spitz naevi: report of two cases
Spitz tumors are genetically associated with activating HRAS point mutations or fusions of either ALK , ROS1 , NTRK1 , NTRK3 , RET , MET , MERTK , LCK , BRAF ,...
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Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism
IntroductionNeurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder characterised by café-au-lait maculae (CALM), skinfold...
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A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations
BackgroundGermline mosaicism is considered to be a rare event. However, its occurrence is underestimated due to the limited availability of germ...
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A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome
X-linked Alport syndrome (XLAS) is a progressive hereditary kidney disease caused by mutations in the COL4A5 gene encoding the type IV collagen α5...
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Healthy live births from transfer of low-mosaicism embryos after preimplantation genetic testing for aneuploidy
PurposeThis study evaluated the potential viability of embryos with low mosaicism level (< 50%) by comparing the clinical outcomes of single mosaic...
