Chromosome Disorders
Chromosomes are a threadlike structure of nucleic acids and protein found in the nucleus of most living cells and their role is to carry genetic information in the form of our genes. In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males (XY) and females (XX).
Some chromosomal disorders are caused by changes in the number of chromosomes and these changes are not typically not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). In other chromosomal disorders, entire chromosomes, or large segments of them, are missing, duplicated, or altered in some way.
- 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- Bartholin-Patau syndrome - See Trisomy 13
- Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- Chromosome 1p36 deletion syndrome
- Chromosome 22q11.2 duplication syndrome
- Cri-du-chat syndrome
- Mosaic trisomy 14
- Mosaic trisomy 15
- Mosaic trisomy 8
- Mosaic trisomy 9
- Patau syndrome - See Trisomy 13
- Smith-magenis syndrome
- Tetraploidy
- Trisomy 13
- Trisomy 18
- Trisomy 20p
- Trisomy 4p
- Turner syndrome
- Wilms Tumor
