Results 21 to 30 of about 282,756 (243)

Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.

Seminars in Pediatric Surgery, 2019
Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can be challenging in the newborn and adolescent.
Erica M. Weidler, M. Pearson, K. V. van Leeuwen, E. Garvey   +3 more
semanticscholar   +3 more sources

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. [PDF]

Eur J Hum Genet, 2017
Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.   +11 more
europepmc   +2 more sources

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. [PDF]

Am J Med Genet A, 2016
Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L.   +8 more
europepmc   +2 more sources

Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster. [PDF]

Genetics, 2016
Lindsley DL, Hardy RW, Ripoll P, Lindsley D.   +3 more
europepmc   +2 more sources

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Frontiers in Genetics, 2022
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being restricted to sperm. However, it could potentially underlie severe sporadic disease in their offspring.
Jiexue Pan, Jiexue Pan, Jiexue Pan, Jiexue Pan, Jie Li, Jie Li, Songchang Chen, Songchang Chen, Chenming Xu, Chenming Xu, Hefeng Huang, Hefeng Huang, Hefeng Huang, Li Jin, Li Jin   +14 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

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

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

American Journal of Medical Genetics. Part A, 2021
Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal–tarsal abnormalities; over half of affected individuals also develop renal disease.
Anu Närhi, Andrea Fernandes, S. Toiviainen-Salo, J. Harris, A. McInerney-Leo, S. Lazarus, K. Avela, E. Duncan   +7 more
semanticscholar   +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

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