Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential
Diagnosis and management of individuals who have differences of sex development (DSD)
due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging …
due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging …
[HTML][HTML] The Clinical Spectrum of Mosaic Genetic Disease
H Geiger, Y Furuta, S van Wyk, JA Phillips III, RJ Tinker - Genes, 2024 - mdpi.com
Genetic mosaicism is defined as the presence of two or more cell lineages with different
genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of …
genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of …
[HTML][HTML] Incidence, prevalence, age at diagnosis, and mortality in individuals with 45, X/46, XY mosaicism: a population-based registry study
K Stochholm, C Holmgård, SM Davis, CH Gravholt… - Genetics in …, 2024 - Elsevier
Purpose To assess the population-based incidence, prevalence, and age at diagnosis of
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …
45, X/46, XY mosaicism: Clinical manifestations and long term follow‐up
E Alkhunaizi, JP Albrecht, M Aarabi… - American Journal of …, 2024 - Wiley Online Library
Abstract 45, X/46, XY chromosomal mosaicism presents a range of clinical manifestations,
including phenotypes from Turner syndrome through genital abnormalities to apparently …
including phenotypes from Turner syndrome through genital abnormalities to apparently …
Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting
CH Gravholt, NH Andersen… - European Journal of …, 2024 - academic.oup.com
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all
stages of life, necessitating multidisciplinary care. This guideline extends previous ones and …
stages of life, necessitating multidisciplinary care. This guideline extends previous ones and …
Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series
MB Fredj, M Messaoud, SB Youssef, S Mani… - Italian Journal of …, 2024 - Springer
Background we aim to discuss the origin and the differences of the phenotypic features and
the management care of rare form of disorder of sex development due to Mosaic monosomy …
the management care of rare form of disorder of sex development due to Mosaic monosomy …
Can boys have Turner syndrome? More than a question of semantics
MM Knoll, J Strickland, JD Jacobson - Sexual Development, 2022 - karger.com
Individuals with 45, X mosaicism with Y chromosome material raised as boys are not
diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to …
diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to …
Differences of sexual development: genetic counseling considerations in the prenatal setting
K Chen, BM Dunleavy, KL Talreja… - Current Opinion in …, 2023 - journals.lww.com
Differences of sexual development: genetic counseling consid... : Current Opinion in Obstetrics
and Gynecology Differences of sexual development: genetic counseling considerations in the …
and Gynecology Differences of sexual development: genetic counseling considerations in the …
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45, X Cell Line:(46, X, psu dic (X; Y)(p22. 13; q11. 221)/45, X/45, psu dic (X; …
A Clement, T Dominot, J Chammas, M Montagnon… - Genes, 2022 - mdpi.com
Infertility affects about 15% of couples of childbearing age. About half of these cases can be
attributed predominantly to a male factor, such as a quantitative or qualitative impairment in …
attributed predominantly to a male factor, such as a quantitative or qualitative impairment in …
Cytogenetic Profile and Phenotypical and Reproductive Complaints in 39 Patients with Turner Syndrome: A Single Center Experience.
ABSTRACT Background/Aim: Turner syndrome (TS) is a genetic failure that influence
phenotypic girls who have full or incomplete monosomy of X chromosome with a variety of …
phenotypic girls who have full or incomplete monosomy of X chromosome with a variety of …