Results 11 to 20 of about 3,493 (177)

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma

Frontiers in Pediatrics, 2022
We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed.
Rujiang Zheng, Qiuli Chen, Huamei Ma, Juncheng Liu, Huadong Chen, Jianbo Liang, Hongshan Chen, Jun Zhang, Yanhong Li, Song Guo, Bing Wang, Minlian Du   +11 more
doaj   +1 more source

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2021
Background Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%–15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by ...
Siyu Wang, Hairui Sun, Jianbin Wang, Xiaoyan Gu, Lu Han, Yuduo Wu, He Yan, Ling Han, Hongjia Zhang, Yihua He   +9 more
doaj   +1 more source

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, Marie Lindhardt Ljubicic, Anne Jørgensen, Anne Jørgensen, Lise Aksglaede, Lise Aksglaede, John Erik Nielsen, John Erik Nielsen, Jakob Albrethsen, Jakob Albrethsen, Anders Juul, Anders Juul, Trine Holm Johannsen, Trine Holm Johannsen   +13 more
doaj   +1 more source

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

eLife, 2022
Background: De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be ...
Martin W Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson   +6 more
doaj   +1 more source

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

Acta Medica Lituanica, 2022
Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas   +4 more
doaj   +1 more source

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Human Genomics, 2023
Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%.
Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung   +8 more
doaj   +1 more source

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients

Frontiers in Pediatrics, 2023
Backgrounds45,X/46,XY mosaicism is the most common type of sex chromosomal abnormality in disorders of sex development (DSD). We investigated the clinical manifestations, serum sex hormone levels and growth data of 38 45,X/46,XY mosaicism patients, which
Jiaoru Yang, Yan Li, Pin Li
doaj   +1 more source

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

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, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source

Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose 45,X/46,XY mosaicism is a rare subset of sex chromosome abnormalities within the spectrum of differences of sex development. This study aimed to evaluate the long-term outcomes in a group of individuals with 45,X/46,XY mosaicism over a 30-year ...
Sarah Wing Yiu Poon, Sharon Wing Yan To, Lisa Lai Ping Siu, Shirley Sze Wing Cheng, Stephanie K.L. Ho, Gloria Shir Wey Pang, Pauline Po Lam So, Joanna Yuet Ling Tung, Ho-Ming Luk   +8 more
doaj   +1 more source