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Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa
American Journal of Medical Genetics, Part A, 2007AbstractThe g.ORF15 + 652–653delAG mutation in the RPGR gene is the most frequent mutation in X‐linked retinitis pigmentosa (XLRP). The objective of this study was to investigate the possibility of mosaicism in an XLRP family. Eight subjects in the RP family were recruited. Blood samples were collected for DNA extraction.
Zi-Bing Jin
exaly +3 more sources
Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
American Journal of Medical Genetics, 1999Ornithine transcarbamylase (OTC) deficiency (McKusick 311250), an X-linked inherited disorder, often presents in males with severe neonatal onset of hyperammonemia. Maternal gonadal mosaicism in OTC deficiency was postulated previously, but no cases have been reported.
D Cowley, M Tuchman
exaly +5 more sources
American Journal of Obstetrics and Gynecology, 2004
In most cases, XX or XY gonadal dysgenesis remains genetically unexplained. In this pilot study we searched for sex-chromosomal mosaicism in gonads of patients with XX or XY gonadal dysgenesis of undetermined origin.Gonadal tissues were analyzed by cytogenetic and interphase fluorescence in-situ hybridization (FISH) analyses in four patients with ...
Albrecht Ropke
exaly +3 more sources
In most cases, XX or XY gonadal dysgenesis remains genetically unexplained. In this pilot study we searched for sex-chromosomal mosaicism in gonads of patients with XX or XY gonadal dysgenesis of undetermined origin.Gonadal tissues were analyzed by cytogenetic and interphase fluorescence in-situ hybridization (FISH) analyses in four patients with ...
Albrecht Ropke
exaly +3 more sources
Gonadal mosaicism in pseudoachondroplasia
American Journal of Medical Genetics, 1987AbstractWe report on a family in which a brother and sister have pseudoachondroplasia and normal parents. The brother married a normal woman, and they have 2 daughters; one of them has typical changes of pseudoachondroplasia, the other is normal. The most likely explanation in this family is gonadal (germinal cell) mosaicism in one of the grandparents.
Judith G. Hall +5 more
openaire +2 more sources
Gonadal mosaicism and familial adenomatous polyposis
Familial Cancer, 2007De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation
Angela L, Schwab +4 more
openaire +2 more sources
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
openaire +5 more sources