Dr. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Contact us About usMission Statement
The Journal of Biochemical and Clinical Genetics is a medical publication dedicated to the study of clinical and biochemical aspects of human genetic disorders including: inborn errors of metabolism dysmorphology, neurogenetics, cytogenetics, genetics syndromes, newborn screening, carriers detection, epidemiology of genetic disorders, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders. The journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.
Aims and Scope
The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype analysis within the current context of genotype/phenotype correlations.
As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:
The journal will also report on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the Journal include clinical reports, editorials, rapid publications, and letters to the editor.
Intrauterine growth retardation (IUGR) is a common childhood problem caused by diverse maternal and fetal mechanisms. It is classified to symmetrical and asymmetrical categories. Genetic and maternal infections and/or diseases may contribute to the vast majority of causes. However, genetic disorders are being increasingly responsible for many causes of severe syndromic and non-syndromic growth dysfunctions. Primordial dwarfisms or microcephalic osteodysplastic primordial dwarfism (MOPD) is genetic and might be a potential etiology for IUGR. It is classified into two subtypes; type I (MOPD; OMIM 210710) and type II. Both are monogenic recessive disorders which are characterized by severe physical growth retardation, prominent facial dysmorphia (Seckel face), microcephaly and progressive disproportion short stature secondary to shortening of the distal and middle segments of the limbs, and variable bony abnormalities. The 47;XXY; Klinefelter syndrome (KS) is a sex chromosomal syndrome first described by Klinefelter in 1942 (4) that approximately affects 1 in 660 newborn boys with only 10% being diagnosed before puberty. Patients with KS show phenotypic variability but they are generally tall and present with perpetual primary testicular failure with reduced testicular volume and hypergonadotropic hypogonadism. In addition, developmental, psychosocial, behavioral, and learning impairments are frequent. We report two opposing growth syndromes in one boy who has typical Seckel features but with Klinefelter syndrome. The phenotype of primordial dwarfism dominates over the features of Klinefelter features. The 47;XXY child harbors a homozygous PCNT pathogenic mutation.
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Advance in peditraic neurmetabolic and movement disorders:
Mini-symosium
2-3 April 2019
PSMMC-Riyadh
Saudi arabia