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13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
Retinoblastoma: A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. [11] Children with these chromosomal deletions may also have intellectual disability, slow growth, and characteristic facial features (such as prominent eyebrows, a broad nasal bridge, a short nose ...
Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes, MODY is a form of the conditions known as monogenic diabetes. While the more common types of diabetes (especially type 1 and ...
Type 1 diabetes, also known as "juvenile-onset" diabetes is increasing in children and adolescents under the age of 15. [132] Type 1 diabetes is an autoimmune disease where the body attacks the beta-cells produced by the pancreas; therefore, causing the body to have insulin deficiency. [133]
Diagnosis may be difficult and often involves a combination of blood tests, urine tests, and a liver biopsy. Genetic testing may be used to screen family members of those affected. [1] Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve eating a low-copper diet and not using copper cookware.
Apples. The original source of sweetness for many of the early settlers in the United States, the sugar from an apple comes with a healthy dose of fiber.
1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p deletion syndrome: 18p D 1:50,000
Cal Yee Farms' recall of some of its products last month has been increased to the highest risk level by the U.S. Food and Drug Administration (FDA) for three of its chocolate offerings.