233 results match your criteria Balkan Journal Of Medical Genetics[Journal]


A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

Balkan J Med Genet 2019 Dec 21;22(2):93-96. Epub 2019 Dec 21.

Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.

L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magnetic resonance imaging (MRI). Read More

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http://dx.doi.org/10.2478/bjmg-2019-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956639PMC
December 2019

A Novel Splice-site Mutation on the Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient.

Balkan J Med Genet 2019 Dec 21;22(2):89-92. Epub 2019 Dec 21.

Department of Pediatric Neurology, Marmara University School of Medicine, İstanbul, Turkey.

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956632PMC
December 2019

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings.

Balkan J Med Genet 2019 Dec 21;22(2):83-88. Epub 2019 Dec 21.

Gynecology and Obstetrics Clinic "Narodni Front", Belgrade, Serbia.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A () gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956634PMC
December 2019

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Balkan J Med Genet 2019 Dec 21;22(2):77-82. Epub 2019 Dec 21.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA.

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Read More

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http://dx.doi.org/10.2478/bjmg-2019-0017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956636PMC
December 2019

Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis.

Balkan J Med Genet 2019 Dec 21;22(2):69-76. Epub 2019 Dec 21.

Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov," Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia.

Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956631PMC
December 2019

Clinical Next Generation Sequencing Reveals an Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation.

Balkan J Med Genet 2019 Dec 21;22(2):65-68. Epub 2019 Dec 21.

Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia.

Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, growth retardation and dysmorphic features. For purposes of clinical genetic diagnostic testing, we performed trio whole exome sequencing in the proband and unaffected parents. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956640PMC
December 2019

Association of Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort.

Balkan J Med Genet 2019 Dec 21;22(2):59-64. Epub 2019 Dec 21.

Department of Biotechnology, Faculty of Biological Sciences, University of Malakand, Malakand District, Khyber-Pakhtunkhwa Province, Pakistan.

The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A and to investigate the role of a genetic variant rs1544410 in the gene in a Pakistani cohort. For this purpose, a total of 917 samples including 469 diabetes mellitus type 2 (T2DM), 145 DM type 1 (T1DM), and 303 healthy control were collected. Out of the total sample set, 500 individuals (250 T2DM cases and 250 controls) were genotyped for rs1544410. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956633PMC
December 2019

Chronic Obstructive Pulmonary Disease Risk and Smoking Cessation Changes Induced by and Variation in a Chinese Male Population.

Balkan J Med Genet 2019 Dec 21;22(2):51-58. Epub 2019 Dec 21.

Department of Respiratory and Critical Care II, Qingdao Municipal Hospital, Qingdao University, Qingdao, People's Republic of China.

Most studies in the field of and have only focused on lung cancer risk; however, the associations with chronic obstructive pulmonary disease (COPD) risk and smoking cessation is less understood, particularly in the Chinese male population. In this study, samples from 823 male patients with COPD (non smokers: 416; still smoking: 407) and 435 smoking male healthy control subjects were performed with DNA extraction and single nucleotide polymorphism (SNP) genotyping. We studied three SNPS in two genes, namely rs667282 and rs3743073 in and rs4950 in , and their distributions in the three groups are not statistically different ( >0. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956637PMC
December 2019

Association of Genetic Polymorphisms in the Gene with Coronary Artery Disease and Serum MGP Levels.

Balkan J Med Genet 2019 Dec 21;22(2):43-50. Epub 2019 Dec 21.

Department of Pharmaceutical Toxicology, Faculty of Pharmacy, Marmara University, İstanbul, Turkey.

Matrix Gla protein (MGP) is an important regulatory protein for inhibition of calcification in the vessel wall and cartilage. The gene polymorphisms are suspected to increase the risk of extracellular calcification through altering the related gene expression and serum MGP levels. The goal of this study was to examine the correlation between rs4236 (Thr83-Ala), rs12304 (Glu60-X) and rs1800802 (T138-C) polymorphisms of the gene and coronary artery calcification. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956629PMC
December 2019

Association of Variants in the , and Genes with Wilson Disease Symptoms in Latvia.

Balkan J Med Genet 2019 Dec 21;22(2):37-42. Epub 2019 Dec 21.

Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, Riga, Latvia.

Wilson's disease (WD) is a copper metabolism disorder, caused by allelic variants in the gene. Wilson's disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the gene, ., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the gene. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956635PMC
December 2019

Evaluation of the JAK2V617F Mutational Burden in Patients with Philadelphia Chromosome Negative Myeloproliferative Neoplasms: A Single-center Experience.

Balkan J Med Genet 2019 Dec 21;22(2):31-36. Epub 2019 Dec 21.

Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University "Ss Cyril and Methodius," Skopje, RN Macedonia.

The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes, ., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956630PMC
December 2019

Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer.

Balkan J Med Genet 2019 Dec 21;22(2):25-30. Epub 2019 Dec 21.

Eskişehir Osmangazi University Faculty of Medicine Department of Medical Genetics, Eskişehir, Turkey.

Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956638PMC
December 2019

Results of Liquid Biopsy Studies by Next Generation Sequencing in Patients with Advanced Stage Non-small Cell Lung Cancer: Single Center Experience from Turkey.

Balkan J Med Genet 2019 Dec 21;22(2):17-24. Epub 2019 Dec 21.

Department of Medical Oncology Ataturk University Faculty of Medicine, Erzurum, Turkey.

Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination of mutations in non-small cell lung cancer (NSCLC). We aimed to report our results of next generation sequencing (NGS) using liquid biopsy in patients with NSCLC. Patients with advanced stage NSCLC were enrolled and their genomic profiling results were recorded. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956641PMC
December 2019

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan J Med Genet 2019 Dec 21;22(2):5-16. Epub 2019 Dec 21.

Center for Biomolecular Pharmaceutical Analyses, UKIM Faculty of Pharmacy, University "Ss. Cyril and Methodius", Skopje, RN Macedonia.

Hereditary factors are assumed to play a role in ~35.0-45.0% of all colorectal cancers (CRCs) with about 5. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956642PMC
December 2019

A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family.

Balkan J Med Genet 2019 Jun 28;22(1):95-98. Epub 2019 Aug 28.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran.

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714341PMC

Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the Gene.

Balkan J Med Genet 2019 Jun 28;22(1):89-94. Epub 2019 Aug 28.

Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey.

Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714336PMC
June 2019
1 Read

Duplication of The Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature.

Balkan J Med Genet 2019 Jun 28;22(1):81-88. Epub 2019 Aug 28.

Medical Faculty Skopje, Skopje, Republic of Macedonia.

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714342PMC
June 2019
1 Read

Impact of Genetics on Neoadjuvant Therapy with Complete Pathological Response in Metastatic Colorectal Cancer: Case Report and Review of the Literature.

Balkan J Med Genet 2019 Jun 28;22(1):75-80. Epub 2019 Aug 28.

Medical School "Dr. Milenko Hadzic," Nis, Belgrade, Serbia.

Treatment of colorectal metastatic cancer is still challenging, despite recent improvements in chemotherapy. A genetic cancer profile, such as the (Kirsten rat sarcoma) gene status, plays a key role in individualized tailored therapy. Molecular targeted therapy added to neo-adjuvant chemotherapy can achieve a better pathological response and prolong survival. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714337PMC
June 2019
2 Reads

Do Fair and Just Systems Require Compensation for the Disadvantages of the Natural Lottery? A Discussion on Society's Duties on the Provision of Gene Therapy.

Balkan J Med Genet 2019 Jun 28;22(1):69-74. Epub 2019 Aug 28.

Department of Medical Pharmacology, TOBB Economics and Technology University Medical School, Ankara, Turkey.

Genetic diseases have been thought to be acquired as a result of sheer bad luck. However, recent advances in medical science have demonstrated the mechanisms of genetic disorders, which enable us to intervene with their occurrence and treatment. Today, gene therapy, once considered too risky, has become safer and can save the lives of patients with previously untreatable and lethal genetic diseases. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714335PMC

Novel Patterns of the Epstein-Barr Nuclear Antigen (EBNA-1) V-Val Subtype in EBV-associated Nasopharyngeal Carcinoma from Vietnam.

Balkan J Med Genet 2019 Jun 28;22(1):61-68. Epub 2019 Aug 28.

Department of Pharmaceutical and Medical Biotechnology, Faculty of Biotechnology, Ho Chi Minh City Open University, Ho Chi Minh City, Vietnam.

The Epstein-Barr nuclear antigen 1 gene, plays a key role in viral infection, immortalization, viral genome replication, transcription and maintenance, and is the frequently detected gene, protein in both latent and lytic stage of Epstein-Barr virus (EBV). Based on the amino acid at position 487, EBNA-1 was classified into five subtypes, including P-Ala, P-Thr, V-Val, V-Pro and V-Leu. In Vietnam, an Asian country with a high incidence, mortality rates of nasopharyngeal carcinoma (NPC), had limited research on the EBNA-1 variation. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714338PMC

Janus Kinase V617F Mutation Detection in Patients with Myelofibrosis.

Balkan J Med Genet 2019 Jun 28;22(1):57-60. Epub 2019 Aug 28.

Department of Medical genetics, Medical Faculty, Medical University Sofia, Sofia, Bulgaria.

Myelofibrosis (MF) is characterized by a presence of an extra fibrous tissue in the bone marrow and additional hematopoiesis. The somatic mutation in the Janus kinase 2 () gene (V617F) occurs gradually and is detected in about 50.0% of myelofibrosis or essential thrombo-cytopenia (ET) patients. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714340PMC
June 2019
4 Reads

Comparative Expression Analysis of Human Endogenous Retrovirus Elements in Peripheral Blood of Children with Specific Language Impairment.

Balkan J Med Genet 2019 Jun 28;22(1):49-56. Epub 2019 Aug 28.

Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski," Plovdiv, Bulgaria.

Specific language impairment (SLI) is a psychiatric condition with a complex etiology and a substantial genetic basis that affects children's verbal communication abilities. In this study, we examined the expression of five different human endogenous retrovirus elements (HERVs) in a cohort of 25 children with SLI and 25 healthy children in the control group. Human endogenous retrovirus elements, a diverse group of repetitive DNA sequences, can potentially cause considerable genetic heterogeneity. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714331PMC

Associations Between Vaspin Rs2236242 Gene Polymorphism, Walking Time and the Risk of Metabolic Syndrome.

Balkan J Med Genet 2019 Jun 28;22(1):41-48. Epub 2019 Aug 28.

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski University, Kielce, Poland.

The associations between serum vaspin levels and metabolic or coronary artery disease (CAD) and polycystic ovary syndrome (PCOS) is under the scope of current researchers. Therefore, this adipokine can be considered as a biomarker of metabolic syndrome (MetS). The aim of the study was to analyze the associations between the vaspin rs2236242 polymorphism and physical activity in relation to MetS and its components. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714332PMC

Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan J Med Genet 2019 Jun 28;22(1):35-40. Epub 2019 Aug 28.

Research Center for Genetic Engineering and Biotechnology "Georgi D.Efremov," Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia.

The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the gene. The knowledge of mutations present in certain population is important for designing a simple, fast and cost-effective genetic testing approach, also for better management of CF patients, including the administration of novel targeted therapies. Here, we present genetic results of 158 unrelated CF patients from the National CF Registry of the Republic of North Macedonia. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714339PMC

Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.

Balkan J Med Genet 2019 Jun 28;22(1):29-34. Epub 2019 Aug 28.

Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University Hospital, Ankara, Turkey.

The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714333PMC
June 2019
1 Read

Increased Expression of Pentraxin 3 in Placental Tissues from Patients with Unexplained Recurrent Pregnancy Loss.

Balkan J Med Genet 2019 Jun 28;22(1):21-28. Epub 2019 Aug 28.

Department of Medical Genetics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.

Pentraxin 3 (PTX3), a prototypical member of the long pentraxin subfamily, is a evolutionarily conserved multimeric pattern recognition receptor involved in the humoral component of the innate immune system. Pentraxin 3 is released when tissue is stressed or damaged, and interacts with many different ligands. Pentraxin 3 exerts a pivotal role both as a regulator and as an indicator of inflammatory response in the pathogenesis of many diseases such as sepsis, vasculitis and preeclampsia. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714334PMC
June 2019
1 Read

A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p.

Balkan J Med Genet 2019 Jun 28;22(1):11-20. Epub 2019 Aug 28.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosome 9p, duplication 9p prenatal, trisomy 9p prenatal. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714344PMC
June 2019
1 Read

Copy Number Variations in Female Infertility in China.

Balkan J Med Genet 2019 Jun 28;22(1):5-10. Epub 2019 Aug 28.

Reproductive Medicine Center, Xinjiang JiaYin Hospital, Shuimogou District, Urumchi, Xinjiang Province, People's Republic of China.

Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation Sequencing (NGS), and analyzed 324 female infertility samples in Xinjiang Province, People's Republic of China. We identified 29 CNVs in total, of which 10 were novel CNVs. Read More

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http://dx.doi.org/10.2478/bjmg-2019-0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714343PMC

A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure.

Balkan J Med Genet 2018 Dec 31;21(2):73-77. Epub 2018 Dec 31.

Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Read More

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http://content.sciendo.com/view/journals/bjmg/21/2/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454244PMC
December 2018
40 Reads
0.167 Impact Factor

Prenatal Diagnosis of a New Case: Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2).

Balkan J Med Genet 2018 Dec 31;21(2):69-72. Epub 2018 Dec 31.

Department of Gynecology and Obstetrics, Faculty of Medicine, Trakya University, Edirne, Turkey.

The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454237PMC
December 2018
30 Reads

A Novel Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability.

Balkan J Med Genet 2018 Dec 31;21(2):63-67. Epub 2018 Dec 31.

Laboratory of Health Physics, Radiobiology & Cytogenetics, NCSR "Demokritos", Athens, Greece.

A novel paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454239PMC
December 2018
9 Reads
0.167 Impact Factor

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics.

Balkan J Med Genet 2018 Dec 31;21(2):59-62. Epub 2018 Dec 31.

Department of Genomics, Hospital "Dr. Malinov," Sofia, Bulgaria.

Intellectual disability is affecting 3.0-4.0% of the general population. Read More

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http://content.sciendo.com/view/journals/bjmg/21/2/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454245PMC
December 2018
29 Reads
0.167 Impact Factor

A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia.

Authors:
Dorum S Gorukmez O

Balkan J Med Genet 2018 Dec 31;21(2):55-57. Epub 2018 Dec 31.

Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the gene. The gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Read More

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http://content.sciendo.com/view/journals/bjmg/21/2/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454238PMC
December 2018
13 Reads
0.167 Impact Factor

The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli's Syndrome.

Balkan J Med Genet 2018 Dec 31;21(2):49-53. Epub 2018 Dec 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli's disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454240PMC
December 2018
15 Reads
0.769 Impact Factor

Next Generation Sequencing Identified a Novel Multi Exon Deletion of the Gene in a Chinese Pedigree with Neurofibromatosis Type 1.

Balkan J Med Genet 2018 Dec 31;21(2):45-48. Epub 2018 Dec 31.

Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People's Republic of China Wuwei City, China.

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the gene causes NF1. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454241PMC
December 2018
10 Reads

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

Balkan J Med Genet 2018 Dec 31;21(2):39-43. Epub 2018 Dec 31.

Laboratory for Human Genetics, Vienna, Austria.

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454246PMC
December 2018
37 Reads

Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones.

Balkan J Med Genet 2018 Dec 31;21(2):35-38. Epub 2018 Dec 31.

Department of Nephrology, University Children's Hospital, Medical Faculty Skopje, Skopje, Republic of Macedonia.

Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454243PMC
December 2018
7 Reads

Epigenetic Signature of Chronic Maternal Stress Load During Pregnancy Might be a Potential Biomarker for Spontaneous Preterm Birth.

Authors:
Rogac M Peterlin B

Balkan J Med Genet 2018 Dec 31;21(2):27-33. Epub 2018 Dec 31.

Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

Preterm birth is the leading cause of mortality in newborn infants and can lead to significant neonatal morbidities. Spontaneous preterm birth accounts for at least 50.0% of all preterm births. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454236PMC
December 2018
20 Reads

The Frequency of EGFR and KRAS Mutations in the Turkish Population with Non-small Cell Lung Cancer and their Response to Erlotinib Therapy.

Balkan J Med Genet 2018 Dec 31;21(2):21-26. Epub 2018 Dec 31.

Medical Biology Department, Pamukkale University, Denizli Turkey.

In this study, profiles of epidermal growth factor receptor (EGFR) and Kirsten ras sarcoma (KRAS) mutations and response to erlotinib therapy have been investigated in patients with non-small cell lung cancer (NSCLC). DNA from 300 patients with NSCLC was extracted from paraf-fin-embedded tissues. After the extracted DNA was sequenced by pyrosequencing method, a total of 97 (32. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454234PMC
December 2018
3 Reads

Determining Specific Thyroid Transcripts in Peripheral Blood: A Single Center Study Experience.

Balkan J Med Genet 2018 Dec 31;21(2):13-20. Epub 2018 Dec 31.

Institute for Forensic Medicine, Criminology and Medical Deontology, Medical Faculty, Skopje, Republic of Macedonia.

Thyroid carcinoma (TC) comprises a spectrum of different tumors with a wide range of biological behavior and prognosis. The techniques based on the latest trends in molecular biology may have application in diagnosis of metastatic TC. The aim of this study was to apply and analyze mRNA expression in peripheral blood of thyrotropin receptor [thyroid stimulating hormone receptor (-mRNA)] gene and thyroglobulin (-mRNA) gene using 2 method in differentiated TC patients and healthy individuals. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454242PMC
December 2018
8 Reads
0.167 Impact Factor

Investigation of Circulating Serum MicroRNA-328-3p and MicroRNA-3135a Expression as Promising Novel Biomarkers for Autism Spectrum Disorder.

Balkan J Med Genet 2018 Dec 31;21(2):5-12. Epub 2018 Dec 31.

Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski," Plovdiv, Plovdiv, Bulgaria.

Circulating microRNAs (miRNAs) are emerging as promising diagnostic biomarkers for autism spectrum disorder (ASD), but their usefulness for detecting ASD remains unclear. Nowadays, development of promising biomarkers for ASD remains a challenge. Recently, dysregulation of the miRNAs expression in postmortem brain tissue, serum and peripheral blood, have been associated with ASD. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454235PMC
December 2018
2 Reads

Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a 22q11.1q11.22 Duplication.

Balkan J Med Genet 2018 Jun 29;21(1):87-91. Epub 2018 Oct 29.

Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Santariskiu St. 4, LT 08406 Vilnius, Lithuania.

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231321PMC
June 2018
26 Reads

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a Mutation and Review of the Literature.

Balkan J Med Genet 2018 Jun 29;21(1):83-86. Epub 2018 Oct 29.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein () gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231312PMC
June 2018
13 Reads

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Balkan J Med Genet 2018 Jun 29;21(1):77-81. Epub 2018 Oct 29.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231311PMC
June 2018
44 Reads

Problems of Unknown Significance: Counseling in the Era of Next Generation Sequencing.

Authors:
U Fahrioğlu

Balkan J Med Genet 2018 Jun 29;21(1):73-76. Epub 2018 Oct 29.

Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Dear Editor Next generation sequencing (NGS) has changed the way we approach the diagnosis, prognosis and treatment of genetic disorders. It gave us base pair (bp) precision, multi-gene approach that can be executed in a timely and cost-effective manner. Despite some minor technical issues in NGS, it comes with great advantages. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231316PMC
June 2018
1 Read

Mutation in Phospholipase C, δ1 () Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Balkan J Med Genet 2018 Jun 29;21(1):69-72. Epub 2018 Oct 29.

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.

Human hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (), on chromosome 3p22. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231310PMC
June 2018
1 Read

(TA) Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.

Balkan J Med Genet 2018 Jun 29;21(1):59-68. Epub 2018 Oct 29.

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231317PMC
June 2018
9 Reads

The Mitochondrial tRNA T10003C Mutation may not be Associated with Diabetes Mellitus.

Balkan J Med Genet 2018 Jun 29;21(1):53-57. Epub 2018 Oct 29.

Department of Endocrinology and Metabolism, People's Hospital of Zhengzhou University, Zhengzhou, Henan Province, Zhengzhou People's Republic of China.

Mitochondrial DNA (mtDNA) mutations have long been proposed to play important roles in the pathogenesis of diabetes mellitus (DM). A large proportion of these mutations are localized at the genes. Owing to its high mutation rate, a growing number of mt-tRNA mutations have been reported; however some of them are neutral genetic polymorphisms and will not result in the alteration of the mitochondrial function responsible for DM. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231318PMC
June 2018
1 Read

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Balkan J Med Genet 2018 Jun 29;21(1):47-52. Epub 2018 Oct 29.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, Italy.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 () gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231313PMC
June 2018
26 Reads

PPAR𝛾 Gene and Atherosclerosis: Genetic Polymorphisms, Epigenetics and Therapeutic Implications.

Balkan J Med Genet 2018 Jun 29;21(1):39-46. Epub 2018 Oct 29.

Institute of Histology and Embryology, Faculty of Medicine University Ljubljana, Ljubljana, Slovenia.

Atherosclerosis is the leading cause of mortality and morbidity in the developed world. It is characterized by the formation of a plaque in the walls of middle and large arteries leading to macrovascular complications. Several risk factors are included, with diabetes being one of the most important for the onset and development of atherosclerosis. Read More

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http://content.sciendo.com/view/journals/bjmg/21/1/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231320PMC
June 2018
10 Reads