Results 31 to 40 of about 37,774 (292)

FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the frequency of clinical features and cytogenetic abnormalities in patients of down syndrome and correlation of cytogenetic abnormalities with clinical features. Study Design: Cross sectional study.
Saira Irum, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Saleem Ahmed Khan   +5 more
doaj   +1 more source

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Frontiers in Genetics
ObjectiveTo assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results.MethodsWe conducted electronic searches in four databases, focusing
Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu   +6 more
doaj   +1 more source

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

Efficacy and Mechanism Evaluation, 2017
Background: Current pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion.
Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher, John A Crolla   +9 more
doaj   +1 more source

Trypanosoma cruzi Genomic Variability: Array Comparative Genomic Hybridization Analysis of Clone and Parental Strain

Frontiers in Cellular and Infection Microbiology, 2022
Trypanosoma cruzi, the etiological agent of Chagas disease, exhibits extensive inter- and intrastrain genetic diversity. As we have previously described, there are some genetic differences between the parental G strain and its clone D11, which was ...
Danielle Rodrigues Cortez, Fabio Mitsuo Lima, Fabio Mitsuo Lima, João Luís Reis-Cunha, Daniella Castanheira Bartholomeu, Rolando Andre Rios Villacis, Silvia Regina Rogatto, André Guilherme Costa-Martins, Fernanda Sycko Marchiano, Rafaela Andrade do Carmo, Jose Franco da Silveira, Marjorie Mendes Marini, Marjorie Mendes Marini   +12 more
doaj   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations [PDF]

J Clin Lab Anal
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Xie J, Huang Y, Yao X, Zhang L, Zhou Y, Wang W, Zhang J, Ge Y.   +7 more
europepmc   +2 more sources

Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis

, 2010
To estimate whether multiplex ligation-dependent probe amplification (MLPA), a molecular technique used for detecting the most common chromosomal aneuploidies, is comparable with karyotyping for the detection of aneuploidies of chromosomes X, Y, 13, 18 ...
Schuring-Blom, G.H., Schuring-Blom, GH, van Lith, JM, Galjaard, Robert-Jan, Lith, J.M. van, Boormans, E.M., MLP Karyotyping Evaluation MAKE St, Oepkes, D., Birnie, E., Oepkes, D, Boormans, EMA, Birnie, Erwin, Galjaard, R.J.   +12 more
core   +1 more source

The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life

, 2010
To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life.Women choosing to undergo amniocentesis were selected into group 1, i.e.
Macville, Merryn, Nijhuis, Jan
core   +3 more sources

Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China

Molecular Genetics & Genomic Medicine, 2020
Background The aim of this study was to evaluate the application of BACs‐on‐Beads (BoBs™) assay for rapid detection of chromosomal abnormalities for prenatal diagnosis (PND). Methods A total of 1520 samples, including seven chorionic villi biopsy samples,
Yan Wang, Min Zhang, Lingji Chen, Hailong Huang, Liangpu Xu   +4 more
doaj   +1 more source

Conventional Karyotyping and Fluorescence In Situ Hybridization for Detection of Chromosomal Abnormalities in Multiple Myeloma [PDF]

, 2022
BACKGROUND: Multiple myeloma (MM) is a genetically heterogeneous disease, with cytogenetic findings that determine disease behavior. Genetic abnormalities can be assessed by fluorescence in situ hybridization (FISH) analysis and/or G-banded karyotyping ...
Cai, Jennifer, Qing, Xin, Crabtree, Matthew   +2 more
core   +1 more source

Chromosomal abnormalities in primary and secondary amenorrhea

Bangabandhu Sheikh Mujib Medical University Journal
Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed
Tasnim Binte Ahmed, Jasmine Akhter Jahan, Bishnu Pada Dey, Saequa Habib   +3 more
doaj   +1 more source