Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review [PDF]
Current Issues in Molecular BiologyGermline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling.
Lisa Dangreau +5 more
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Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism
Frontiers in Endocrinology, 2021 ObjectiveInsulin-like factor 3 (INSL3) is produced in the testes and has been proposed as a circulating biomarker of Leydig cell capacity, but remains undescribed in 45,X/46,XY mosaicism. The aim was to examine serum concentrations and gonadal expression
Marie Lindhardt Ljubicic +13 more
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Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. [PDF]
Mol Genet Genomic Med, 2018 Congenital aniridia is a severe autosomal dominant binocular developmental disorder, the primary feature of which is congenital absence or hypoplasia of the iris.
Bai Z, Kong X.
europepmc +2 more sources
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. [PDF]
Prenat Diagn, 2017 De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.
Wilbe M +8 more
europepmc +2 more sources
Y chromosome in Turner syndrome: review of the literature [PDF]
São Paulo Medical Journal, 2009 Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the ...
Rose Mary Rocco de Oliveira +5 more
doaj +3 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2013 Objective: To present the prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta (OI) associated with unaffected parents and paternal gonadal mosaicism. Materials and Methods: A 37-year-old woman was referred for genetic counseling at
Chih-Ping Chen +5 more
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Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue [PDF]
Molecular Genetics & Genomic MedicineBackground Li Fraumeni syndrome (LFS) is a hereditary multi‐cancer syndrome caused by alterations in TP53 (MIM# 151623). Next generation sequencing (NGS) allows for the detection of TP53 variants at lower variant allele frequencies (VAFs). A TP53 variant
Rhianna M. Urban +9 more
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Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. [PDF]
BMC Med Genet, 2015 BackgroundIn humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain.
Mroske C +8 more
europepmc +2 more sources
Molecular Cytogenetic Detection of Confined Gonadal Mosaicism in a Conceptus with Trisomy 16 Placental Mosaicism [PDF]
The American Journal of Human Genetics, 1998 Microsatellite analysis was performed in the laboratory of Dr. W. P. Robinson. We thank I. J. Barrett, F. Bernasconi, and B. L. Lomax, of the Research Cytogenetics and Molecular Genetics Laboratories, for their technical assistance. The comments, on the manuscript, of Drs. W. P. Robinson, F. J. Dill, E. Separovic, and A.
Stavropoulos, Dimitrios J. +2 more
openaire +4 more sources
Gonadal mosaicism mediated female-biased gender control in mice. [PDF]
Protein Cell, 2022 Bai M +6 more
europepmc +3 more sources