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Journal of Biochemical and Clinical Genetics
ISSN 1658-807X · Discover STM Publishing Ltd · 137 artikel di indeks
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Artikel Jurnal
Atypical down syndrome features with an atypical chromosomal rearrangement: a case report
Background: Down syndrome is one of the most common chromosomal abnormalities occurring in approximately 1 in 700 live births. The majority of cases are attributed to the presence of an additional copy of chromosome 21, resulting in a total chromosome count of 47, as opposed to the typical 46…
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Artikel Jurnal
Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
Background: Intellectual Developmental Disorder, Autosomal Recessive 39 (IDDAR39) is a rare inherited condition caused by mutated TTI2 gene. The condition is characterized by intellectual disability and developmental delays, among other clinical features. Methods: We conducted a genetic study in a…
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Artikel Jurnal
Polyendocrinopathy, deafness and albinism, a new combination syndrome
Background: Waardenburg syndrome is a rare genetic disorder with distinct characteristics. Since their discovery, some types of WS have been reported only once. Type 2F, the subject of this article, has only eleven reported cases worldwide. Case Presentation: In this article, we report a…
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Artikel Jurnal
A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to "Immunodeficiency 82 with Systemic…
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Artikel Jurnal
Kohlschutter–Tonz syndrome: clinical and genetic insight on patients with ROGDI variant
Background: Kohlschutter–Tonz syndrome (KTS) is a rare genetically heterogeneous autosomal recessive syn drome initially described in 1974 and characterized by the triad of infantile-onset epilepsy, amelogenesis imperfecta, and developmental delay. KTS patients share a common genetic trait, namely…
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Artikel Jurnal
The Importance and Deficiencies of Medical Treatment Guidelines for Genetic Disorders in the Middle East Region
There are many difficulties in managing genetic illnesses in the Middle East because of its complex genetic makeup and particular environmental conditions. Middle Eastern populations are characterized by high levels of inbreeding, large family sizes, and high mother and paternal ages. In the Middle…
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Artikel Jurnal
Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study
Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment. This retrospective cohort study aimed to characterize the clinical, biochemical, genetic, and respiratory chain profiles of HIBCH…
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Artikel Jurnal
Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report
Background: Ring chromosome 8 is a rare cytogenetic condition, with limited clinical and genetic characterization. Case Presentation: We hereby report a case of a 4-month-old male child with craniofacial dysmorphism (microcephaly, aural dysplasia, anteverted nares, micrognathia, and visuo-ocular…
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Artikel Jurnal
A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.
Background: The genetic Neurological disorders are both clinically and genetically heterogeneous. Among them Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is a rare autosomal recessive genetic syndromic condition. This study is aimed to characterize the…
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Artikel Jurnal
Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence
Background Pentasomy involving duplication of isochromosome 21;der(21;21)(q10;q10) is a rare cytogenetic abnormality linked primarily to acute lymphoblastic leukemia (ALL) and less frequently to acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). These abnormalities often occur in…
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Artikel Jurnal
Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases
Background: Niemann-Pick disease Type C (NPC) is a rare genetic lipid storage disorder characterized by heterogeneous clinical presentations primarily affecting the neurological and visceral systems. This study aims to elucidate the clinical manifestations, radiological findings, and genetic…
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Artikel Jurnal
IHH gene variants in North Indian individuals with brachydactyly A1
Background: Brachydactyly A1 (BDA1) is an autosomal dominant disorder. It manifests as shortness/absence of the middle phalanges in the hands and feet. It is caused by a variation in the Indian hedgehog (IHH) gene. The IHH gene plays an important role in the development of limbs. IHH is expressed…
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Artikel Jurnal
Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease (GD) in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia. Methods…
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Artikel Jurnal
Gene Therapy for Rare Genetic Disorders: Transformative Progress, Challenges, and Future Prospects
The emergence of gene therapy has heralded a revolutionary era in the medical domain, especially for the treatment of rare genetic disorders. These conditions, stemming from mutations in individual genes, frequently result in severe health issues with few treatment options. For years, the outlook…
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Artikel Jurnal
Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study
Background: Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic disorders characterized by recurrent chromosomal abnormalities that guide diagnosis and prognosis. Der(1;7) is a relatively rare abnormality and was reported in 1-3% of MDS patients and 1-2% of acute myeloid…
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Artikel Jurnal
Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi
Background: Duchenne Muscular Dystrophy (DMD) the most common muscular dystrophy affecting mainly males, is caused by mutation of DMD (dystrophin) gene. The present study aimed at reporting the phenotypic and mutation spectrum of clinically suspected DMD children by molecular testing from the…
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Artikel Jurnal
Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study
Background: Identifying the cause of recurrent pregnancy loss (RPL) helps in the direct management of future pregnancies. In 3%-4% of cases, a chromosomal structural rearrangement is identified in the couple. Pre-implantation genetic testing - structural rearrangements (PGT-SR) is an accepted…
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Artikel Jurnal
G6PD Deficiency and Parkinson's Disease: An emerging correlation
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, recognized as the most prevalent enzymopathy globally, limits pentose phosphate pathway (PPP), causing oxidative damage to dopaminergic nigrostriatal (DNS) neurons, has been implicated as a potential risk factor for early-onset…
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Artikel Jurnal
Variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B
Background: Polydactyly is a hereditary condition in humans resulting from abnormalities in genes related to the development of autopods. This disorder can be inherited in an autosomal dominant or autosomal recessive pattern. GLI1 functions as a moderator in the hedgehog signaling pathway. Upon…
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Artikel Jurnal
Genetic advances in skeletal disorders: an overview
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders characterized by abnormal development, remodeling, and growth of the human skeleton's cartilage and bones. GSDs have a high spectrum of phenotypes that range from disproportionate short stature (dwarfism) in…