Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early …
Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY
syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a …
syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a …
Selected genetic factors associated with primary ovarian insufficiency
M Chen, H Jiang, C Zhang - International Journal of Molecular Sciences, 2023 - mdpi.com
Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional
ovaries in women before the age of 40. It is characterized by primary amenorrhea or …
ovaries in women before the age of 40. It is characterized by primary amenorrhea or …
[HTML][HTML] The comorbidity landscape of 47, XXX syndrome: a nationwide epidemiologic study
A Berglund, K Stochholm, CH Gravholt - Genetics in Medicine, 2022 - Elsevier
Purpose This study aimed to describe the comorbidity pattern in 47, XXX syndrome.
Methods This was a registry-based study of hospital diagnoses and prescribed medication …
Methods This was a registry-based study of hospital diagnoses and prescribed medication …
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45, X/47, XXX): Results from the InsighTS Registry
N Klamut, S Bothwell, AE Carl, V Bamba… - American Journal of …, 2024 - Wiley Online Library
Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little
is known about the phenotype of individuals with TS mosaic with trisomy X (45, X/47, XXX or …
is known about the phenotype of individuals with TS mosaic with trisomy X (45, X/47, XXX or …
Sex chromosome aneuploidies and fertility: 47, XXY, 47, XYY, 47, XXX and 45, X/47, XXX
AD Rogol - Endocrine Connections, 2023 - ec.bioscientifica.com
The overall incidence of sex chromosome aneuploidies is approximately 1 per 500 live-born
infants, but far more common at conception. I shall review the fertility aspects of the sex …
infants, but far more common at conception. I shall review the fertility aspects of the sex …
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
Background The diagnosis of supernumerary X & Y chromosome variations has increased
following the implementation of genetic testing in pediatric practice. Empirical evidence …
following the implementation of genetic testing in pediatric practice. Empirical evidence …
Genetic insights into the complexity of premature ovarian insufficiency
L Nie, X Wang, S Wang, Z Hong, M Wang - Reproductive Biology and …, 2024 - Springer
Abstract Premature Ovarian Insufficiency (POI) is a highly heterogeneous condition
characterized by ovarian dysfunction in women occurring before the age of 40, representing …
characterized by ovarian dysfunction in women occurring before the age of 40, representing …
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter …
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47, XYY syndrome
was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data …
was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data …
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X
Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X
syndrome (47, XXX), especially among older adults who are undiagnosed. In this study, we …
syndrome (47, XXX), especially among older adults who are undiagnosed. In this study, we …
In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series
R Wang, L Zhang, J Liao, F Ma, Q Ma - Birth Defects Research, 2024 - Wiley Online Library
Background To describe and conclude the in vitro fertilization (IVF) results of patients with X
chromosome abnormality. Methods A retrospective case series was conducted. According to …
chromosome abnormality. Methods A retrospective case series was conducted. According to …