Definition Cardiomyopathies (CMPs) are a group of diseases with multiple etiologies and heterogeneous phenotypes, ranging from microscopic changes in cardiomyocytes asymptomatic patients to cases fulminant heart failure fluid retention, perfusion rhythm changes. A CMP was initially defined as muscle disease caused by genetic defects, myocyte injury or myocardial infiltration, characterized stru...

BACKGROUND AND OBJECTIVES The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whos...

Schizophrenia is hypothesized to be the result of an interaction between specific genetic factors and nonspecific insults during embryonic development. Dermatoglyphic abnormalities appear to mark these putative insults--providing information about the temporal sequence of aberrant developmental events as well as the organism's vulnerability to their adverse effects. In the present study, dermat...

Trisomy 8 mosaicism syndrome (T8MS ) is a rare chromosome disorder caused by the presence of extra in some cells body. T8MS clinically variable condition associated with number developmental abnormalities. We report dysmorphic features and congenital anomalies. A 3.5-month-old boy was referred to genetic department because his atypical facial appearance. Physical examination revealed microcepha...

Thyroid cancer is a frequent endocrine related malignancy with continuous increasing incidence. There has been moving development in understanding its molecular pathogenesis recently mainly through the explanation of the original role of several key signaling pathways and related molecular distributors. Central to these mechanisms are the genetic and epigenetic alterations in these pathways, su...

In 1992, Brugada syndrome (BrS) was described for the first time as a pattern of ST-segment elevation in right precordial electrocardiography (EKG) leads with high incidence unexplained cardiac arrest (UCA) and sudden death (SCD) patients structurally normal hearts [1]. It is associated an autosomal dominant genetic predisposition. Therefore, case diagnosed UCA or SCD, first-degree relatives ar...

Pediatric acute lymphoblastic leukemia (ALL) is a malignant disease resulting from accumulation of genetic alterations. A robust technology, single nucleotide polymorphism oligonucleotide genomic microarray (SNP-chip) in concert with bioinformatics offers the opportunity to discover the genetic lesions associated with ALL. We examined 399 pediatric ALL samples and their matched remission marrow...

Preimplantation Genetic Diagnosis T he opportunity to exclude in-vitro derived embryos with documented genetic abnormalities before the initiation of pregnancy is an attractive means of preventing heritable genetic disease. Currently couples who are carriers of genetic disease have the option of undergoing chorionic villus sampling in the first trimester or amniocentesis in the second trimester...

Background: In disorders of sexual differentiation, development may not conform to the chromosomal structure, thus forming different types abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go complete masculinization especially in presence SRY gene. Objective: The goal this work demonstrate a relationship ...