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Melorheostosis and somatic mosaicism
American Journal of Medical Genetics, 1995Melorheostosis is a rare congenital disorder of the bone and mesenchymal tissue. The longitudinal, cortical hyperostosis in the long bones has the appearance of wax flowing down the side of a candle. The short bones appear to manifest endosteal bone deposition. Usually only one limb is affected, but bilateral involvement is possible.
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1937
a. Literature. Several cases of somatic mosaicism of animals are known. Hyde and Powell (44, 1916) describe 3 mosaics in Drosophila melanogaster. From the mating of a blood ♀ and eosin ♂ a ♀ arose, the right eye of which was typically blood, the left eosin, as it was in an eosin ♂.
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a. Literature. Several cases of somatic mosaicism of animals are known. Hyde and Powell (44, 1916) describe 3 mosaics in Drosophila melanogaster. From the mating of a blood ♀ and eosin ♂ a ♀ arose, the right eye of which was typically blood, the left eosin, as it was in an eosin ♂.
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Regional proteus syndrome and somatic mosaicism
American Journal of Medical Genetics, 1994AbstractWe report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome.
E, Smeets, J P, Fryns, M M, Cohen
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Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism
American Journal of Medical Genetics, 1993AbstractWe report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism. © 1993 Wiley‐Liss, Inc.
RIZZO, Renata +4 more
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Somatic mosaicism in von Hippel-Lindau disease
Human Mutation, 2000von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and ...
MURGIA, ALESSANDRA +5 more
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Somatic and gonadal mosaicism in Hutchinson–Gilford progeria
American Journal of Medical Genetics Part A, 2005AbstractWe have studied a patient with Hutchinson–Gilford progeria (HGP). Sequence analysis of the LMNA gene demonstrated the presence of a c.1824 C > T (p.G608G) mutation, activating a cryptic splice donor site and leading to the formation of a truncated Lamin A protein.
Wuyts, W +5 more
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Double somatic mosaicism in Marfan syndrome
American Journal of Medical Genetics Part AAbstractMarfan syndrome (MFS) is a hereditary systemic connective tissue disorder with great clinical variability. It is caused by heterozygous pathogenic variants in the FBN1 gene. Cardinal manifestations involve the cardiovascular, ocular, and skeletal systems. Clinical diagnosis is based on the revised Ghent nosology.
Ignacio Arroyo Carrera +5 more
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Somatic mosaicism in healthy human tissues
Trends in Genetics, 2011From the fertilization of an egg until the death of an individual, somatic cells can accumulate genetic changes, such that cells from different tissues or even within the same tissue differ genetically. The presence of multiple cell clones with distinct genotypes in the same individual is referred to as 'somatic mosaicism'. Many endogenous factors such
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Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging
Cell, 2020Xiao Dong, Jan Vijg
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