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The Gale Genetic Disorders of encyclopedia vol 1 - part 6

Chọc dò màng ối, thủ tục thực hiện tại 16-18 tuần của thai kỳ, trong đó một cây kim được đưa vào thông qua bụng của người phụ nữ vào tử cung của mình để vẽ ra một mẫu nhỏ của nước ối quanh bé. | Diastrophic dysplasia KEY TERMS Amniocentesis A procedure performed at 16-18 weeks of pregnancy in which a needle is inserted through a woman s abdomen into her uterus to draw out a small sample of the amniotic fluid from around the baby. Either the fluid itself or cells from the fluid can be used for a variety of tests to obtain information about genetic disorders and other medical conditions in the fetus. Cartilage Supportive connective tissue which cushions bone at the joints or which connects muscle to bone. Chondrocyte A specialized type of cell that secretes the material which surrounds the cells in cartilage. Chorionic villus sampling CVS A procedure used for prenatal diagnosis at 10-12 weeks gestation. Under ultrasound guidance a needle is inserted either through the mother s vagina or abdominal wall and a sample of cells is collected from around the fetus. These cells are then tested for chromosome abnormalities or other genetic diseases. Chromosome A microscopic thread-like structure found within each cell of the body and consists of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size structure may lead to physical or mental abnormalities. Cleft palate A congenital malformation in which there is an abnormal opening in the roof of the mouth that allows the nasal passages and the mouth to be improperly connected. Clubfoot Abnormal permanent bending of the ankle and foot. Also called talipes equinovarus. Collagen The main supportive protein of cartilage connective tissue tendon skin and bone. Deoxyribonucleic acid DNA The genetic material in cells that holds the inherited instructions for growth development and cellular functioning. DNA mutation analysis A direct approach to the detection of a specific genetic mutation or mutations using one or more laboratory techniques. Dysplasia The abnormal growth or development of a tissue or organ. Epiphyses The .