Aneuploidy screening is used to detect numerical chromosomal aberrations in embryos created in vitro and intended for implantation. It is a cytogenetic test that can only detect numerical aberrations of specific chromosomes. Aneuploidy screening thus represents a form of preimplantation genetic diagnosis (PGD). What is aneuploidy screening? Aneuploidy screening is used only in in vitro … Aneuploidy Screening: Treatment, Effects & Risks
Potocki-Shaffer syndrome is a skeletal malformation syndrome characterized by exostoses, often intelligence deficiency, and craniofacial abnormalities. It is caused by a deletion of genes in locus 11p11.2 on chromosome 11. Treatment is purely symptomatic supportive and limited to measures such as early intervention. What is Potocki-Shaffer syndrome? Monosomies are variants of genomic mutation in which … Potocki-Shaffer Syndrome: Causes, Symptoms & Treatment
Prefertilization diagnostics offers the possibility of genetic testing of a woman’s eggs as part of in vitro fertilization (IVF). The tests are performed on the chromosomes of the 1st and 2nd polar bodies, which are formed during the 1st and 2nd maturation division after the introduction of a male sperm into the egg. The method … Prefertilization Diagnostics: Treatment, Effects & Risks
John C. P. Williams (b.1922), a cardiac specialist from New Zealand, and the first German chair of pediatric cardiology, Alois Beuren (1919-1984), were the first physicians to describe Williams-Beuren syndrome, which was named after them, in the early 1960s. WBS is a genetic defect that has significant effects on the internal organs, especially the heart, … Williams-Beuren Syndrome: Causes, Symptoms & Treatment
FISH test is a microscopic chromosome test used in prenatal and carcinoma diagnosis of breast cancer, gastric cancer and in chronic lymphocytic leukemia. The test, the result of which is available within 1 to 2 days, can detect mainly chromosomal abnormalities that are due to an altered chromosome set of certain chromosomes. The test is … FISH Test: Treatment, Effect & Risks
