Clinical Genetics

Disorders of Sex Development

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 type (sex differentiation). Abnormalities at any of these stages can contribute to sex development disorders…

Chromosome nomenclature and G banding

Chromosome nomenclature and G banding

Arbitrarily, the terms karyogram, karyotype and ideogram have often been used. The term karyogram should be applied to a systematic sequence of chromosomes prepared either by drawing, digitizing, or extending photography, indicating that the chromosomes of a single cell will describe an individual’s or even a species’ chromosomes. To identify the regular or irregular, colonial…

Fundamentals of Cytogenetic Techniques

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 interphase cells. Once dividing cells are obtained, mitotic arresting agents (such as Colcemid, colchicine, or…

Common Genetic Disorders

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 development or during the delivery process trigger them. One example of a non-genetic congenital disorder…

Cystic Fibrosis

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 13% are over the age of 30. Gene Product: CFTR (cystic fibrosis transmembrane conductance regulator)…