(See also Overview of Chromosome and Gene Disorders Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. Genes are segments of deoxyribonucleic acid ( DNA) and contain the code for a specific protein that functions in one or... read more .)
Chromosomes Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more are structures within cells that contain DNA DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more
and many genes.
Genes Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more are segments of deoxyribonucleic acid (DNA) and contain the code for a specific protein that functions in one or more types of cells in the body. Genes contain instructions that determine how the body is supposed to look and function. (See Genes and Chromosomes Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more
for a discussion about genetics.)
When parts of chromosomes are missing, a number of syndromes can occur. These syndromes are called chromosomal deletion syndromes. They tend to cause birth defects Overview of Birth Defects Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. They are usually obvious within the first year of life. The cause of many birth... read more , intellectual disability Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more , and problems with physical development. In some cases, defects can be severe, and affected children may die before birth or during infancy or childhood.
There are many chromosomal deletion syndromes, which include
Chromosomal deletion syndromes may be suspected before birth or after birth. The diagnosis of these syndromes is confirmed by chromosomal testing. (See also Next-generation sequencing technologies Next-generation sequencing technologies Genetic diagnostic technologies are scientific methods that are used to understand and evaluate an organism's genes. (See also Genes and Chromosomes.) Genes are segments of deoxyribonucleic... read more .)
Some physical defects can be corrected with surgery, but generally treatment is supportive.