Results 51 to 60 of about 282,756 (243)

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

BMC Pediatrics, 2019
Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
Lili Pan, Zhe Su, Jianming Song, Wanhua Xu, Xia Liu, Longjiang Zhang, Shoulin Li, on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital   +7 more
doaj   +1 more source

MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2020
Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources ...
Mohammad Moin Shahid
doaj   +1 more source

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

African Journal of Paediatric Surgery, 2016
Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo, S Dahoun, C Kamadjou, A S Nwaha Makon, G Fossi, O G Andze, M A Sosso, P Y Mure   +7 more
doaj   +1 more source

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Sexing the X: How the X Became the “Female Chromosome” [PDF]

, 2014
This essay examines how the X became the “female chromosome” and how the association of the X with femaleness influences research questions, models, and descriptive language in human sex chromosome research.
Richardson, Sarah S
core   +2 more sources

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

Case Reports in Pediatrics, 2019
Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males.
Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio   +5 more
doaj   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

, 2015
BACKGROUND: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome.
A Franzese, A Grossi, Anikó Somogyi, Antónia Völgyi, Artúr Beke, C Hernando, CC Wong, CH Gravholt, CM Powell, D Chang, D Wechsler, Dezső David, EJ Verver, Eszter Kiss, F Rousseau, F Schmidt, FS Grass, G Horváth, G Koumbaris, GS Letteire, György Fekete, H Pamjav, Henriett Pikó, Horolma Pamjav, I Bianchi, Irén Haltrich, J Auger, KT Jørgensen, ME Ochalski, MJ Schoemaker, MK Kim, N Morimoto, OA Shchelochkov, P Invernizzi, RT Hamza, T Eggermann, T Terano, Veronika Karcagi, VK Bakalov, VK Bakalov, W Gawron, Zoltán Garamvölgyi   +41 more
core   +2 more sources

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]

, 2020
BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel, Brueckner, Martina, Chung, Wendy K, DePalma, Steven, Gelb, Bruce D, Goldmuntz, Elizabeth, Gorham, Joshua M, Griffin, Emily, Hsieh, Alexander, Kim, Richard W, Lifton, Richard P, Manheimer, Kathryn B, McKean, David, Morton, Sarah U, Newburger, Jane W, Porter, George A, Qi, Hongjian, Seidman, Christine E, Seidman, JG, Shen, Yufeng, Srivastava, Deepak, Tai, Angela C, Tristani-Firouzi, Martin, Willcox, Jon AL   +23 more
core   +3 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

BMC Medical Genetics, 2011
Background Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated. Case presentation We report a female patient with
Clemmensen Ole J, Fagerberg Christina R, Bygum Anette, Fiebig Britta, Hafner Christian   +4 more
doaj   +1 more source