Genetics

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Claud Dabu

Gesundheit & Medizin

Chromosomal aberrations Submitted by: Claudette Dabu Lester Santos AAPD2F

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A chromosomal disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from a typical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. The term "karyotype" refers to the full set of chromosomes from an individual.

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Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.

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Aneuploidy is a type of chromosomal abnormality in which numbers of chromosomes are abnormal.Generally, the aneuploid chromosome set differs from wild type by only one or a small number of chromosomes. It is a genetic disorder causes birth defects. It is the second major category of chromosome mutations in which chromosome number is abnormal. Aneuploid nomenclature is based on the number of copies of the specific chromosome in the aneuploid state. For example, the aneuploid condition 2n − 1 is called monosomic (meaning “one chromosome”) because only one copy of some specific chromosome is present instead of the usual two found in its diploid progenitor. The aneuploid 2n + 1 is called trisomic,2n − 2 is nullisomic, and n + 1 is disomic.

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These are simplified slides discussing the regulation of cardiac output and venous return. Learning objectives: 1. Comprehend the determinants of cardiac output and factors affecting cardiac output 2. Comprehend the factors affecting stroke volume and heart rate and total peripheral resistance 3. Identify the factors regulating venous return 4. Discuss the causes of high and low output cardiac failure 5. Enlist the functions of veins and recognise the significance of venous reservoirs Study Resources: 1. Chapter 20, Guyton and Hall Textbook of Medical Physiology, 14th edition 2. Chapter 30 and 32, Ganong’s Review of Medical Physiology, 26th edition 3. Chapter 10, Human Physiology by Lauralee Sherwood, 9th edition 4. Physiology, Cardiac Output - StatPearls https://www.ncbi.nlm.nih.gov/books/NBK470455/

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