Results 31 to 40 of about 22,195,386 (187)

Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis

Chinese Medical Journal, 2022
. Background:. Chromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination.
Yan Sun, Weiyuan Zhang, Zhiwen Wang, Likui Guo, Shaowen Shi, Jing Ni   +5 more
doaj   +1 more source

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype

Molecular Cytogenetics, 2022
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally ...
Jieping Song, Wei Jiang, Chengcheng Zhang, Bo Wang   +3 more
doaj   +1 more source

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis

, 2023
Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Meiying Cai, Xiaorui Xie, Xiaoqing Wu, Liangpu Xu, Linjuan Su, Baojia Huang, Yuqin Chen   +6 more
core   +1 more source

Pitt–Hopkins syndrome (PTHS)– a case report from Pakistan

Journal of the Pakistan Medical Association
Pitt–Hopkins syndrome (PTHS) is a rare genetic neurodevelopment disorder where affected individuals exhibit symptoms such as severe developmental delays and intellectual disability. To the best of our knowledge, this report presents the first known case
Asghar Nasir, Bushra Afroze, Saad Ilyas, Zeeshan Ansar, Zahra Hasan   +4 more
doaj   +1 more source

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

Molecular Cytogenetics, 2022
Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism ...
Wenjuan Tang, Guowei Chen, Jingshu Xia, Ying Zhang   +3 more
doaj   +1 more source

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

, 2023
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis.
Periklis Makrythanasis, Konstantina Kosma, Anastasios Mitrakos, Maria Tzetis   +3 more
core   +2 more sources

Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction

Molecular Cytogenetics, 2018
Background Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18–32 weeks.
Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu, Fang Yang   +6 more
doaj   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Genetics Research, 2022
Objective. The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further ...
Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang   +9 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source