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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population
Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on...
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
BackgroundWith the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome...
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A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs),...
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Copy number variations (CNVs) and karyoty** analysis in males with azoospermia and oligospermia
BackgroundConsidering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes...
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Dysmorphic Syndromes with Anomalies of the Oral Cavity and Extremities
It is a group of complex dysmorphisms in which the prevalent symptom is constituted by anomalies of the oral cavity and the jaw associated with...
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal...
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Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies
Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal chromosomal aneuploidies. However, the ability of NIPT-Plus to detect...
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Sex Chromosome Haploty**
Chromosomes X and Y have been true homologues and have evolved differently over the years. The Y chromosome has shrunk to about 60 Mb in size as a...
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Human Genetics of Ventricular Septal Defect
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac...
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Yield of genetic evaluation in non-syndromic pediatric moyamoya patients
PurposeFew guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing...
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Sex Chromosome-Linked Diseases
It is widely accepted that human X and Y chromosomes are differentiated from a pair of autosomes by means of chromosomal inversions or accumulation...
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Copy Number Variations and Schizophrenia
Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to...
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Comparison of the combined use of CNV-seq and karyoty** or QF-PCR in prenatal diagnosis: a retrospective study
To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyoty** or QF-PCR. Although several studies have...
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Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies
Clinical utility of Array-CGH Easychip 8x15K platform can be assessed by testing its ability to detect the occurrence of pathogenic copy number...
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Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA),...
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Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas
ObjectivesNeurocytomas (NCs) are rare intracranial tumors that can often be surgically resected. However, disease course is unpredictable in many...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only known causative gene is IKBKG...
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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience
BackgroundKaryoty** has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis...
