A First Look at Genetic Mosaicism in Cannabis

CSA News ◽  
2022 ◽  
Author(s):  
DJ McCauley
Keyword(s):  
Genetic Mosaicism

Autism spectrum disorder in a patient with genetic mosaicism: case report

2017 ◽  
Vol Ano 7 ◽  
pp. 38-41
Author(s):  
Ana Sofia Pontes Trillo ◽  
Mariana Gianola Arruda ◽  
Camila Fernandes Bonifácio Jubara ◽  
Isabela Mosconi Caldas ◽  
Sonia Maria Motta Palma
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Mosaicism

O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossônicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.

scholarly journals Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique

2021 ◽  
Author(s):  
Francesca Riccardi ◽  
Simone Catapano ◽  
Giuseppe Cottone ◽  
Dino Zilio ◽  
Luca Vaienti
Keyword(s):  
Adipose Tissue ◽  
Lower Limb ◽  
Vascular Malformations ◽  
Functional Improvement ◽  
Proteus Syndrome ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Genetic Mosaicism ◽  
Phosphoinositide 3 Kinase ◽  
The Right

AbstractProteus syndrome is a rare, sporadic, congenital syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, alteration of adipose tissue, and vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 kinase (PI3-K), and phosphatase and tensin homolog (PTEN), may be important causes of Proteus syndrome. However, many patients have no evidence of mutations in these genes. Currently, the diagnosis is clinical and based on phenotypic features. This article reports a case of Proteus syndrome in a 14-year-old female patient who presented with linear epidermal nevi, viscera anomalies, and adipose tissue dysregulation. She showed an asymmetric progressive overgrowth of the right lower limb after birth bringing relevant functional and esthetic consequences. Therefore, she asked a plastic surgery consultation and a surgical treatment with a combined technique was planned. With our approach, we were able to reduce leg diameter and improve joint mobility reliably and safely with satisfying esthetic results.

Genetic mosaicism at the insulin locus in liver associated with childhood hepatoblastoma

1995 ◽  
Vol 13 (1) ◽  
pp. 72-73 ◽  
Author(s):  
Lisa A. Simms ◽  
Anthony E. Reeve ◽  
Peter J. Smith
Keyword(s):  
Genetic Mosaicism

scholarly journals Early divergence of mutational processes in human fetal tissues

2019 ◽  
Vol 5 (5) ◽  
pp. eaaw1271 ◽  
Author(s):  
Ewart Kuijk ◽  
Francis Blokzijl ◽  
Myrthe Jager ◽  
Nicolle Besselink ◽  
Sander Boymans ◽  
...  
Keyword(s):  
Stem Cells ◽  
Adult Stem Cells ◽  
Fetal Liver ◽  
Mutation Accumulation ◽  
Intestinal Stem Cells ◽  
Adult Liver ◽  
Fetal Tissues ◽  
Genetic Mosaicism ◽  
Human Fetal Tissues ◽  
Mutational Processes

A developing human fetus needs to balance rapid cellular expansion with maintaining genomic stability. Here, we accurately quantified and characterized somatic mutation accumulation in fetal tissues by analyzing individual stem cells from human fetal liver and intestine. Fetal mutation rates were about fivefold higher than in tissue-matched adult stem cells. The mutational landscape of fetal intestinal stem cells resembled that of adult intestinal stem cells, while the mutation spectrum of fetal liver stem cells is distinct from stem cells of the fetal intestine and the adult liver. Our analyses indicate that variation in mutational mechanisms, including oxidative stress and spontaneous deamination of methylated cytosines, contributes to the observed divergence in mutation accumulation patterns and drives genetic mosaicism in humans.

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Haemophilia ◽  
2020 ◽  
Vol 26 (3) ◽  
pp. 375-383 ◽  
Author(s):  
Nathalie Lannoy ◽  
Cedric Hermans
Keyword(s):  
Haemophilia A ◽  
Genetic Mosaicism

scholarly journals Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

2019 ◽  
Vol 7 ◽  
Author(s):  
Natalia Krawczynska ◽  
Jolanta Wierzba ◽  
Bartosz Wasag
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Genetic Mosaicism ◽  
Cornelia De Lange

scholarly journals Neurocutaneous Manifestations of Genetic Mosaicism

2015 ◽  
Vol 04 (03) ◽  
pp. 144-153 ◽  
Author(s):  
Maurice van Steensel
Keyword(s):  
Genetic Mosaicism

scholarly journals Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

2013 ◽  
Vol 21 (11) ◽  
pp. 1240-1248 ◽  
Author(s):  
Sung Pyo Park ◽  
In Hwan Hong ◽  
Stephen H Tsang ◽  
Stanley Chang
Keyword(s):  
Cellular Imaging ◽  
Genetic Mosaicism ◽  
Heterozygous Carriers

Hypomelanosis of Ito

2018 ◽  
Vol 16 (05) ◽  
pp. 265-275 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Chiara Battaglini ◽  
Carmelo Schepis ◽  
Concetta Pirrone ◽  
...  
Keyword(s):  
Fungal Infections ◽  
Somatic Growth ◽  
Incontinentia Pigmenti ◽  
First Year ◽  
Hypomelanosis Of Ito ◽  
Genetic Mosaicism ◽  
Lines Of Blaschko ◽  
Endocrine Status ◽  
Neurocutaneous Syndrome ◽  
First Year Of Life

AbstractHypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

Genetic mosaicism and population connectivity of edge-of-range Halodule wrightii populations

2020 ◽  
Vol 161 ◽  
pp. 103161 ◽  
Author(s):  
Gina Digiantonio ◽  
Linda Blum ◽  
Karen McGlathery ◽  
Kor-jent van Dijk ◽  
Michelle Waycott
Keyword(s):  
Population Connectivity ◽  
Halodule Wrightii ◽  
Genetic Mosaicism
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