Results 11 to 20 of about 31,423 (169)

Whole exome sequencing: a new era in prenatal diagnostics [PDF]

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +2 more sources

#365 : Characteristics of Embryo Mosaicism Detected Using Next-Generation Sequencing PGT-A

Fertility & Reproduction, 2023
Background and Aims: Chromosomal mosaicism may occur in minority of embryos. Their commonality and uncertainty made the embryo mosaic rates vary from center to center.
Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Raden Muharam, Budi Wiweko, Kanadi Sumapraja, Gita Pratama, Achmad Kemal Harzif, Mila Maidarti, Vita Silvana, Andon Hestiantoro   +10 more
doaj   +1 more source

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

Endocrine Connections, 2022
Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1).
Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet   +13 more
doaj   +1 more source

Acne Syndromes and Mosaicism

Biomedicines, 2021
Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and
Sumer Baroud, Jim Wu, Christos C. Zouboulis   +2 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

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging

Molecular Cytogenetics, 2020
Background Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual.
Svetlana G. Vorsanova, Yuri B. Yurov, Ivan Y. Iourov   +2 more
doaj   +1 more source

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