Theory & Practices of Clinical Laboratory
Craniofacial disorders entail a wide spectrum of issues affecting the anatomy and development of the skull and face. These abnormalities, ranging from cleft lip and palate to craniosynostosis and Treacher-Collins syndrome, can have serious physical and mental consequences. Understanding the genetic links underlying craniofacial abnormalities is critical for proper diagnosis, …
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder characterized by the loss of lower motor neurons (anterior horn cells) in the spinal cord and brainstem nuclei, resulting in progressive muscle weakening and atrophy. The severity and age at onset differ considerably. SMA was initially documented in the …
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 …
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 …
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 …
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 …
Prenatal diagnosis and screening are intended to inform pregnant women and their partners about their fetus’s risk of birth defects or genetic disorders, as well as provide them with advice on how to deal with the uncertainty. Many families that are known to be at high risk of having a …
Cystic Fibrosis (CF) is a complex multi-system disease caused by mutations in the CFTR gene. It predominantly affects children, but about 41% of patients are adults, with 13% over 30 years old. Genetic testing and advancements in therapies are pivotal for diagnosis and treatment. Key CFTR Gene Facts CFTR Gene Mutations and …