Results 11 to 20 of about 58,582 (311)

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

Molecular Genetics & Genomic Medicine, 2022
Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher.
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren   +9 more
doaj   +1 more source

The nature of embryonic mosaicism across female age spectrum: an analysis of 21,345 preimplantation genetic testing for aneuploidy cycles

F&S Reports, 2023
Objective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory.
Abigail Armstrong, M.D., Lindsay Kroener, M.D., Jenna Miller, M.S., Anissa Nguyen, M.P.H., Lorna Kwan, M.P.H., Molly Quinn, M.D.   +5 more
doaj   +1 more source

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

BMC Genomics, 2022
Background In preimplantation genetic testing for aneuploidy (PGT-A), appropriate evaluation of mosaic embryos is important because of the adverse implications of transferring embryos with high-level mosaicism or discarding those with low-level mosaicism.
Dongjia Chen, Yan Xu, Chenhui Ding, Yali Wang, Yu Fu, Bing Cai, Jing Wang, Rong Li, Jing Guo, Jiafu Pan, Yanhong Zeng, Yiping Zhong, Xiaoting Shen, Canquan Zhou   +13 more
doaj   +1 more source

Mosaicism in 22q11.2 Microdeletion Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Microdeletion syndrome is characterized by sub-microscopic chromosomal deletion smaller than 5 Million bp (5Mb) and frequently associated with multiple congenital anomalies.
Ashutosh Halder, Manish Jain, Amanpreet Kaur Kalsi   +2 more
doaj   +1 more source

The embryo mosaicism profile of next-generation sequencing PGT-A in different clinical conditions and their associations

Frontiers in Reproductive Health, 2023
IntroductionUniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases.
Hadassa Campos Heiser, Natalia Fagundes Cagnin, Mariane Uehara de Souza, Taccyanna Mikulski Ali, Paula Regina Queiroz Estrada, Camila Cristina Wuaquim Dantas de Souza, Bruno Coprerski, Carmen Rubio, Marcia Riboldi   +8 more
doaj   +1 more source

Phylogenomic analysis reveals extensive phylogenetic mosaicism in the Human GPCR Superfamily [PDF]

, 2007
A novel high throughput phylogenomic analysis (HTP) was applied to the rhodopsin G-protein coupled receptor (GPCR) family. Instances of phylogenetic mosaicism between receptors were found to be frequent, often as instances of correlated mosaicism and ...
Allaby, Robin G., Woodwark, Mathew
core   +1 more source

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Frontiers in Genetics, 2023
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods.
Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi   +13 more
doaj   +1 more source

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. [PDF]

, 2016
Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of ...
Corsello G, Falsaperla R, Pavone P, Pavone V, Praticò AD, Ruggieri M, Savasta S, Sessa G, Signorelli SS   +8 more
core   +1 more source

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

#347 : Factors Related to Mosaicism of Human Embryo: Conventional Statistics and Machine Learning Analysis

Fertility & Reproduction, 2023
Background and Aims: Mosaicism arises from errors in the cell division process and can lead to cells containing a combination of normal and mutated genes. Mosaic embryos can produce healthy babies.
Huy-Phuong Tran, Long Nu-Hai Nguyen, Tuong-Nguyen Ho, Vy Nguyen-Thao Do, Loc-Thai Ly, Tuyet Thi-Diem Hoang   +5 more
doaj   +1 more source