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Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy
Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric...
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A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
BackgroundMolecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the...
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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers
BackgroundMLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC)....
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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
BackgroundTemple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to...
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Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics
IntroductionThe accurate detection of genetic variants such as single substitutions ( IDH1/2 , TERT ), chromosomal abnormalities ( CDKN2A , 1p/19q...
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Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array
BackgroundThe phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms....
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Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA)
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic...
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Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders
Chromosome 15q24 microdeletion is a rare genetic disorder characterized by development delay, facial dysmorphism, congenital malformations, and...
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
BackgroundImprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent...
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The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
The Korean Genetic Diagnosis Program for Rare Disease (KGDP) enrolled 1890 patients with rare diseases between March 2017 and October 2022. Children...
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Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan
Wilms tumor is the most common pediatric renal malignancy. Several genetic loci have been shown to be associated with its formation. Genetic or...
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Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation
Constitutional MLH1 methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (≤ 10%) has occasionally been described. This...
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The expanding diagnostic toolbox for rare genetic diseases
Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic...
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The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation
Imprinting disorders are a group of congenital diseases that can result from multiple mechanisms affecting imprinted gene dosage including...
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STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and...
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Technologies to Study Genetics and Molecular Pathways
Over the last few decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular...
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Clinical validation of a novel quantitative assay for the detection of MGMT methylation in glioblastoma patients
BackgroundThe promoter hypermethylation of the methylguanine-DNA methyltransferase gene is a frequently used biomarker in daily clinical practice as...
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Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
BackgroundSilver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly...
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Advances in translational research of the rare cancer type adrenocortical carcinoma
Adrenocortical carcinoma is a rare malignancy with an annual worldwide incidence of 1–2 cases per 1 million and a 5-year survival rate of <60%....
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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Background16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity,...
