Category Clinical Genetics

Disorders of Sex Development

Sex development starts in utero but progresses with the completion of sexual maturity and reproductive capacity into young adulthood. Three primary components may be classified into the major determinants of sex development: chromosomal sex, gonadal sex (sex determination), and phenotypic…

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Fundamentals of Cytogenetic Techniques

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. Chromosomes are studied by cytogenetic techniques and are best studied at mitotic or meiotic metaphase, although some studies, such as fluorescence in situ hybridization (FISH) methods, may utilize…

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Common Genetic Disorders

Diseases, syndromes, and other disorders caused by mutations or chromosomal abnormalities of one or more genes are known as genetic conditions. Congenital disorders are not caused by genetic defects or chromosomal variations. Rather, problems that arise during embryonic or fetal…

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Prenatal Diagnosis and Screening

Prenatal diagnostic and screening are meant to inform pregnant women and their partners to their fetus’s likelihood of birth abnormalities or genetic disorders, as well as give them with information about how to deal with the ambiguity. Many families that…

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Cystic Fibrosis

Cystic Fibrosis is a multi-system disease marked by a monogenic condition. While Cystic Fibrosis is mostly a childhood condition, about 5% of adults are diagnosed with it. About 41% of Cystic Fibrosis patients are over the age of 18, and…

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