Cargando…

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1), in the proband’s grandmother, which caused u...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xie, Min, Xue, Jiangyang, Zhang, Yuxin, Zhou, Ying, Yu, Qi, Li, Haibo, Li, Qiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512417/ https://www.ncbi.nlm.nih.gov/pubmed/37745854 http://dx.doi.org/10.3389/fgene.2023.1248544

Ejemplares similares

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
por: Fonova, E. A., et al.
Publicado: (2023)

Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15
por: Vafaeie, Farzane, et al.
Publicado: (2021)

Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis
por: Boeva, Valentina, et al.
Publicado: (2013)

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6
por: Ganguly, Bani Bandana, et al.
Publicado: (2011)

Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female
por: Gupta, Neelam, et al.
Publicado: (2019)

Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12
por: Tezcan, Berrin, et al.
Publicado: (2015)

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
por: Yang, Kai, et al.
Publicado: (2019)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
por: Zhu, Xiaolin, et al.
Publicado: (2015)

Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
por: Shi, Shanshan, et al.
Publicado: (2023)

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
por: Tran Mau-Them, Frédéric, et al.
Publicado: (2023)

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
por: Yan, Huifang, et al.
Publicado: (2021)

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature
por: Vorsanova, Svetlana G, et al.
Publicado: (2008)

Balanced to unbalanced pulse transformer
por: Mulder, P B
Publicado: (1959)

Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism
por: Zhang, Jian, et al.
Publicado: (2020)

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
por: Antwi, Prince, et al.
Publicado: (2018)

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
por: Wu, Qiong, et al.
Publicado: (2022)

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy
por: Jiang, Tiejia, et al.
Publicado: (2021)

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon
por: Gupta, Sonal, et al.
Publicado: (2023)

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
por: Quinlan-Jones, Elizabeth, et al.
Publicado: (2018)

Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report
por: Sekhon, Morgan, et al.
Publicado: (2022)

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement
por: Aristidou, Constantia, et al.
Publicado: (2018)

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei
por: Pinton, Alain, et al.
Publicado: (2004)

Chromosome Painting in Gymnotus carapo “Catalão” (Gymnotiformes, Teleostei): Dynamics of Chromosomal Rearrangements in Cryptic Species
por: Machado, Milla de Andrade, et al.
Publicado: (2022)

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing
por: Zhou, Jia, et al.
Publicado: (2021)

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay
por: Verdi, Giavanna, et al.
Publicado: (2022)

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
por: Han, Ji Yoon, et al.
Publicado: (2020)

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
por: Aristidou, Constantia, et al.
Publicado: (2022)

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity
por: Suntharesan, Jananie, et al.
Publicado: (2022)

Trio exome sequencing is highly relevant in prenatal diagnostics
por: Gabriel, Heinz, et al.
Publicado: (2021)

18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review
por: Choi, Ji Young, et al.
Publicado: (2022)

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
por: Erol, Ilknur, et al.
Publicado: (2015)

Using dried blood spot samples from a trio for linked-read whole-exome sequencing
por: Mortensen, Ólavur, et al.
Publicado: (2019)

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
por: Ghieh, Farah, et al.
Publicado: (2021)

SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts
por: Treff, Nathan R., et al.
Publicado: (2016)

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
por: Sheth, Frenny, et al.
Publicado: (2015)

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
por: Kleinfinger, Pascale, et al.
Publicado: (2020)

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder
por: Du, Xiujuan, et al.
Publicado: (2018)

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia
por: Rees, E, et al.
Publicado: (2015)

Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus
por: Mousa, Mira, et al.
Publicado: (2023)

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
por: Weckselblatt, Brooke, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_803bkv775ckubp4mas1fhhaimu