Results 81 to 90 of about 282,756 (243)

45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report

Journal of the ASEAN Federation of Endocrine Societies, 2020
45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable.
Eunice Yi Chwen Lau, Yin Khet Fung
doaj   +1 more source

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

, 2015
BACKGROUND: In 30-50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, or POLE or POLD1, causing polymerase-proofreading ...
Adam, R., Aretz, S., Becker, T., Drichel, D., Hoffmann, P., Holinski-Feder, E., Holzapfel, S., Horpaopan, S., Kerick, M., Kirfel, J., Kristiansen, G., Laner, A., Lifton, R., Nöthen, M., Perner, S., Peters, S., Schweiger, M., Spier, I., Timmermann, B., Zhao, B.   +19 more
core   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

Urology Annals, 2015
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual.
Shyam M Talreja, Indraneel Banerjee, Sher Singh Yadav, Vinay Tomar   +3 more
doaj   +1 more source

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders [PDF]

, 2011
Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of ...
Rebecca Christine Knickmeyer, Marsha Davenport   +1 more
core   +2 more sources

Evaluation of Catch Performance and Environmental Impact of Technical Gear Modifications for a More Sustainable Scallop Dredging Fishery

Aquaculture, Fish and Fisheries, Volume 6, Issue 2, April 2026.
Catch and environmental performance of modified scallop dredge designs were assessed. Skid belly bags increased scallop catch by 14%–19% and reduced gear wear. N‐Virodredge reduced catch of scallop juveniles and sorting time. Gear footprint on the seabed was reduced by 50% for skid belly bags. N‐Virodredge cut fuel use by 30%, reducing carbon emissions
Blair Easton, Caleb Moffat, Moritz Eichert, Aisha Abdallah, Natalie Hold, Michel J. Kaiser, Marija Sciberras   +6 more
wiley   +1 more source

Papular Epidermal Nevus with “Skyline” Basal Cell Layer Syndrome – Natural Course: Case Report and Literature Review

Case Reports in Dermatology, 2017
Papular epidermal nevus with “skyline” basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases.
Carole Anouk Zahn, Peter Itin
doaj   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 800-806, April 2026.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Molecular Genetics & Genomic Medicine, 2019
Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.
Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang   +4 more
doaj   +1 more source

A Rare Case of Rudimentary Uterus With Absence of Both Ovaries and 46,XX Normal Karyotype Without Mosaicism

Taiwanese Journal of Obstetrics & Gynecology, 2008
Summary: Objective: We report an 18-year-old patient with bilateral ovarian agenesis, rudimentary uterus and normal fallopian tubes, and with normal 46,XX karyotype (without mosaicism).
Murat Dede, Kazim Gezginç, Mustafa Ulubay, Ibrahim Alanbay, Müfit Yenen   +4 more
doaj   +1 more source