Cytogenetics

Edwards' syndrome, also known as Trisomy 18 is considered a chromosomal condition where there are abnormalities in certain parts of the body. People with Trisomy 18, often have slow growth in the wound (intrauterine growth retardation). These newborns usually have heart defects and other defects throughout the child’s body. This also includes a small shaped head, a small mouth and jaw, and sometimes overlapping fingers and small hands. Children with Trisomy 18 usually die within their first…

Leukemia does not show obvious symptoms early on, however it shows certain unusual symptoms which need further diagnoses. Leukemia detection test involves many diagnostic methods such as blood test, bone marrow test, cytogenetic analysis, immunophenotyping, polymerase chain reaction (PCR), immunoglobulin test, fluorescence in situ hybridization (FISH), and G-banding karyotyping. The evaluation of these this diagnostic test takes place in the laboratory to determine the treatment plan for the…

There are thousands of diseases in the world. Some diseases can be cured others cant be. Some of these diseases however, deal with genetics. Genetic disease is defined as a disease caused by an abnormality in an individual's genome ("Genetic Disease"). One genetic disease that affects many people is Acute Myeloid Leukemia. Roughly 20,000 people each year are diagnosed with Acute Myeloid Leukemia or AML ("How Many People”). One casualty of these disease is my grandma who passed away of AML in…

The outcome of WHO classification system upgrades the clinical and prognostic utility by the involvement of immunophenotyping, cytomorphology, molecular and cytogenetic tests (ANGELESCU, BERBEC, COLITA, BARBU, & LUPU, 2012). 2. The WHO classification is currently being utilized substantially more and can recognize leukemia with a good prognosis, or that will react to particular treatments, more precisely in…

Advances in genetic tools has helped to discover multiple cytogenetic tests which can detect copy number variations which associates with neurodevelopmental disorders. These includes microarrays and next-generation sequencing (NGS)17. Rare copy number variations are common in patients with neurodevelopmental such…

Diagnosis of Neurofibromatosis type 1 is based mainly on clinical findings which meet the diagnostic criteria for Neurofibromatosis 1 which was developed by the National Institutes of Health. Since Neurofibromatosis 1 is caused by heterozygous pathogenic modifications in NF1, molecular testing is rarely needed for diagnosis, and is only useful for certain individuals. The diagnostic criteria for Neurofibromatosis 1 is: 1 they must have six or more café-au-lait macules which are, for prepubescent…

Physiology of early miscarriage Sporadic miscarriage occurs before embryo development represent a physiological phenomenon, which prevents congenitally malformed or chromosomally abnormal embryos to progress to viability. Congenital and/or chromosomal abnormalities incompatible with life observed in 85% of early clinical miscarriages.[5] However, some aneuploidies can survive to term pregnancy as trisomy 21. The fetal chromosomal abnormalities of maternal origin are related to the advanced…

While developing countries experience malnutrition due to reliance on single crops, they can be altered in order to produce different vitamins, minerals, or proteins. Herbs for medicinal purposes such as vaccines may be introduced into normal foods in order to produce a cost effective method of administration with ease. Modified oil content in seeds promotes nutrition. Along both intensive and extensive margins within economic production rates in countries, conventional seeds replaced by…

I was keenly aware of the importance of Genetics in health care early in my time studying Medicine and later have gained profound knowledge of it as well as Cell Biology and Molecular Biology through in-depth Biomedical studies. However, it is during my current study on the genetic disorder Neurofibromatosis type 1 (NF1) when my passion for the Laboratory Genetics and Genomics was lighted. My passion for the Laboratory Genetics and Genomics was lighted while I am conducting current studies on…

Extraosseous Ewing's Sarcoma in the thigh A case report and review of the literature HichamSallahi, Omar Margad, KhalidKoulaliIdrissi Trauma-Orthopaedic Department, Military Hospital of Avicenne Marrakech correspondingauthor: Hicham Sallahi Address :Trauma-Orthopaedic Department, Military Hospital of Avicenne Marrakech Tél : +212661353375 E-mail : sallahi.hicham37@gmail.com Summary The extraosseous Ewing's sarcoma is a rare tumor. The authors reported a case on the thigh level,…