Results 171 to 180 of about 282,756 (243)

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Clinical Genetics, 2014
Autosomal recessive diseases are typically caused by the biparental inheritance of familial mutant alleles. Unusual mechanisms by which the recessiveness of a mutant allele is unmasked include uniparental isodisomy and the occurrence of a de novo chromosomal rearrangement that disrupts the other allele.
S. Anazi, E. Al‐Sabban, F. Alkuraya
semanticscholar   +3 more sources

Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa

American Journal of Medical Genetics Part A, 2007
AbstractThe 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, Feng Gu, H. Matsuda, N. Yukawa, Xu Ma, N. Nao‐i   +5 more
semanticscholar   +3 more sources

Somatic‐gonadal mosaicism causing Sotos syndrome

American Journal of Medical Genetics Part A, 2016
B. Kamien, T. Dadd, M. Buckman, A. Ronan, T. Dudding, C. Meldrum, R. Scott, K. Mina   +7 more
semanticscholar   +3 more sources

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism.

European Journal of Medical Genetics, 2023
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS, OMIM 615722) is a rare autosomal dominant disorder characterized by intellectual disability, optic atrophy, cortical visual impairment, mild facial dysmorphism, hypotonia, hearing problems, attention ...
Victoria van Renterghem, C. Vilain, K. Devriendt, I. Casteels, G. Smits, J. Soblet, I. Balikova   +6 more
semanticscholar   +1 more source

A gonadal mosaicism novel KMT2D mutation identified by haplotype construction and clone sequencing strategy.

Clinica chimica acta; international journal of clinical chemistry, 2022
Here we reported a pedigree that gave birth to two characteristic clinical signs of Kabuki syndrome daughters. They had an intellectual disability with special facial features.
Liangjie Guo, Mengting Zhang, Yue Gao, Litao Qin, Hailan Xia, Lin Liu, Hongdan Wang   +6 more
semanticscholar   +1 more source

MIXED GONADAL DYSGENESIS WITH XX/XY MOSAICISM

The Lancet, 1965
A.D. Bain, J.S. Scott
openaire   +3 more sources

CHROMATIN-POSITIVE GONADAL DYSGENESIS AND MOSAICISM

The Lancet, 1961
openaire   +3 more sources

Gonadal mosaicism in pseudoachondroplasia

American Journal of Medical Genetics, 1987
AbstractWe 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, John P. Dorst, Julie Rotta, Victor A. McKusick, John M. Opitz, James F. Reynolds   +5 more
openaire   +2 more sources

Gonadal mosaicism and familial adenomatous polyposis

Familial Cancer, 2007
De 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, Thérèse M F, Tuohy, Michelle, Condie, Deborah W, Neklason, Randall W, Burt   +4 more
openaire   +2 more sources

Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

Clinical Endocrinology, 2021
To evaluate the growth data, gonadal functions and tumour risk in children with 45, X/46, XY mosaicism.
S. Poyrazoglu, F. Baş, B. Karaman, M. Yıldız, S. Başaran, F. Darendeliler   +5 more
semanticscholar   +1 more source