Genomic variations and chromosomal abnormalities

Accumulation of Variants of Uncertain Significance (VUS) in DNA Damage Response (DDR) genes creates a bottleneck for patient selection in early-phase trials. While BRCA-mutated tumors have established therapies, ATM and PALB2 VUS carriers often remain ineligible for PARP inhibitors. We aimed to reclassify germline VUS…

DeSanto-Shinawi syndrome (DESSH) is a rare autosomal dominant neurodevelopmental disorder associated with heterozygous pathogenic variants in the WAC gene, most commonly resulting in loss of function. The clinical spectrum of DESSH continues to expand, whereas detailed electroencephalographic descriptions remain limit…

Objective: The CDKAL1 rs7754840 G>C polymorphism is link to defective insulin release and an elevated risk of type 2 diabetes mellitus. The objective of the current research was to identify the frequencies of alleles and genotypes for the rs7754840 G>C polymorphism in healthy Turkish individuals and to contrast them w…

Objective: Prenatal diagnosis refers to the detection of fetal and embryonic chromosomal abnormalities during the antenatal period using appropriate methods based on gestational age. This study aimed to identify chromosomal abnormalities in high-risk pregnancies, determine their frequency, and highlight their clinical…

Introduction: gene. The present study reports on a monozygotic twin exhibiting hypomelanosis of Ito and localized brain overgrowth, attributable to a complex somatic MTOR variant, which is only detectable by RNA sequencing (RNAseq). Case Presentation: A 9-year-old girl with a healthy monozygotic twin developed seizure…

Preimplantasyon genetik çalışmalarda anöploidi taraması (PGT-A), tüp bebek tedavilerinde embriyo transferinden önce embriyoların kromozom sayı bozuklukları (anöploidi) açısından taranmasını sağlayan bir yöntemdir. Bu uygulamanın temel amacı, euploid (kromozom sayısı normal) embriyoların seçilerek gebelik şansını artır…

INTRODUCTION: Whole-exome sequencing (WES) is considered an important tool in investigating the etiology of developmental delay/intellectual disability (DD/ID) and epilepsy. Genetic diagnosis with WES has become an important tool in patients with DD/ID and epilepsy. METHODS: In this study, we present the findings of W…

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6q25 microdeletion is a rare syndrome associated with intellectual disability and dysmorphism. However, comorbid Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are poorly documented. We report a 16-year-old male with a 6.7 Mb deletion (6q25.1-q25.3) presenting with hydrocephalus…

Background Reverse transcription quantitative real-time polymerase chain reaction is the gold standard for gene expression quantification. Yet, this method's accuracy heavily depends on choosing appropriate reference genes for data normalization. Reference genes must display stable expression levels across biological…

Smith-Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid-induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep-wake rhythm. Because early…