Cargando…

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

BACKGROUND: Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs and UBCA identified i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Ying, Chen, Juan, Feng, Zonghui, Li, Wencheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380353/ https://www.ncbi.nlm.nih.gov/pubmed/35971114 http://dx.doi.org/10.1186/s13039-022-00614-0

Ejemplares similares

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
por: Tang, Wenjuan, et al.
Publicado: (2022)

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

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
por: Yu, Chunjiao, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family
por: Chen, Juan, et al.
Publicado: (2022)

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

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families
por: Wang, Li, et al.
Publicado: (2018)

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
por: Zhou, Yaqing, et al.
Publicado: (2022)

Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray
por: Takashima, Akiko, et al.
Publicado: (2016)

Genetic Counseling in Inherited Cardiomyopathies
por: Moharem-Elgamal, Sarah, et al.
Publicado: (2020)

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations
por: Liu, WeiQiang, et al.
Publicado: (2015)

Clinical diagnosis and genetic counseling of atypical ataxia-telangiectasia in a Chinese family
por: Cao, Jiangxia, et al.
Publicado: (2019)

Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy
por: Kolarski, Milenko, et al.
Publicado: (2017)

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities
por: Song, Tingting, et al.
Publicado: (2020)

Prenatal genetic counselling for psychiatric disorders
por: Mohapatra, Satyakam, et al.
Publicado: (2022)

Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience
por: Comas, Carmen, et al.
Publicado: (2012)

Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
por: Sanyal, Debarshi, et al.
Publicado: (2016)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
por: Li, Meihua, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22
por: Hu, Yu-an, et al.
Publicado: (2016)

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism
por: Xu, Chenyang, et al.
Publicado: (2020)

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy
por: Mao, Bin, et al.
Publicado: (2023)

Recent advances in genetic testing and counseling for inherited arrhythmias
por: Mizusawa, Yuka
Publicado: (2016)

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)

Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report
por: Zhong, Liangying, et al.
Publicado: (2021)

Prenatal Diagnosis: A Directive Approach to Genetic Counseling Using Decision Analysis
por: Pauker, Susan P., et al.
Publicado: (1977)

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
por: Kucińska-Chahwan, Anna, et al.
Publicado: (2022)

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
por: Zhao, Peiwei, et al.
Publicado: (2021)

The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities
por: Elsayed, Ghada M, et al.
Publicado: (2013)

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations
por: Huang, Ting-Xuan, et al.
Publicado: (2021)

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy
por: Liu, Siwen, et al.
Publicado: (2021)

The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature
por: Lai, Shaoyang, et al.
Publicado: (2020)

Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)
por: Poornima, Subhadra, et al.
Publicado: (2020)

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis
por: Westerfield, Lauren, et al.
Publicado: (2014)

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
por: Yu, Mullin Ho Chung, et al.
Publicado: (2021)

Association between chromosome abnormities and prenatal diagnosis indicators screening in the second trimester of pregnancy
por: Pan, Ci, et al.
Publicado: (2023)

Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
por: Xiao, Yang, et al.
Publicado: (2021)

Parental decisions of prenatally detected sex chromosome abnormality.
por: Kim, Yon-Ju, et al.
Publicado: (2002)

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

In-house genetic counseling increases the detection of abnormal karyotypes—a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland
por: Bijok, Julia, et al.
Publicado: (2020)

Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
por: Silva, Maria Luiza Macedo, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_2d7bnvm0pqunjt5k5i6520i4pb