Alexis Davis-Smith Ms.

Traniello Biology January 22, 2013

Chromosome #13
Diseases: Bladder Cancer: Any of several types of malignancy arising from the epithelial lining of the urinary bladder. o Causes painful urination and blood to become visible, prostate infection, and an over-active cystitis Breast Cancer: A type of cancer originating from the breast tissue mostly coming from the inner lining of milk ducts. o A lump on the breast that normally feels different from the rest of the breast tissue. o Causes one breast to become either larger or lower, a change in position of the nipple or becoming invert or shape, skin puckering or dimpling, rash around the nipple, discharge form nipple(s), constant pain in part of breast or armpit, and swelling beneath armpit or collar bone. Heterochromia: A difference in coloration, usually of the iris but also with skin color or hair. o A result of the relative excess or lack of melanin, which is a pigment.

o When a person is born with eyes that are two separate colors from each other. o It may be inherited or cause by genetic mosaics, chimeras, disease, or an injury. Hirschsprungs Disease: A disorder of the abdomen that occurs when all or part of the large intestine has no nerves and therefore cannot function. o The infected part of the colon cannot contract so therefore it cannot pass stool creating an obstruction. o Nerve cells known as ganglion cells are absent causing chronic constipation. Nonsydromic Deafness: Hearing loss that is not associated with other signs and symptoms. o A hearing loss that doesnt affect any other part of the body. Propionic Acidemia: An autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. o Death can occur quickly due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke. Retinoblastoma: A rapidly developing cancer that develops in the cell of retina, the light detecting tissue of the eye. o An abnormal appearance of the pupil, leukocoria, also known as amuarotic cats eyes reflex. o Some children with retinoblastoma can develop a squint commonly referred to as cross-eye or wall-eyed. Waardenburg Syndrome: A rare genetic disorder often characterized by varying degrees of deafness.

o Minor defects in structures arising from the neural crest, and pigmentation anomalies. o A few major signs are sensor neural hearing loss, iris pigmentary abnormality, and hair hypopigmentation. Wilsons disease: An autosomal recessive disorder in which copper accumulates in tissue. o This manifests as neurological or psychiatric systems and liver disease. o People with liver problems come to medical attention early as children or teenagers. o Its treated with that reduces copper absorption or removes the excess copper from the body but usually a liver transplant is required. Patau Syndrome: A syndrome cause by Chromosomal abnormality, where some or all of the cells in the body contain extra genetic material from chromosome 13. o This can occur because each cell contains a full extra cell of chromosome 13 (A disorder known as trisomy D). o Pataus syndrome is most often the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two.