Relacionar Columnas AbnormalitiesVersión en línea Match the descriptions to the abnormality por Jennifer Paris 1 XYY 2 Sickle-Cell Anemia 3 Tay Sachs Disease 4 Huntington's Disease 5 Klinefelter syndrome (XXY) 6 Duchenne Muscular Dystrophy 7 Achondroplasia 8 Turner Syndrome (XO) 9 Down syndrome 10 Hemophilia 11 Albinism 12 Cystic Fibrosis 13 Phenylketonuria (PKU) 14 Triple X Syndrome An X-linked chromosomal disorder caused when an extra Y chromosome is present. There are few symptoms. They may include being taller than average, acne, and an increased risk of learning problems. The most common form of disproportionate short stature. The individual has abnormal bone growth resulting in short stature, disproportionately short arms and legs, short fingers, a large head, and specific facial features. An X-linked chromosomal disorder caused when an extra X chromosome is present in the cells of a male due to a random event. Can cause some breast development, infertility, and low levels of testosterone. A fatal neurological disorder caused by a recessive gene that primarily afflicts Jews of Eastern European origin. A genetic disease that affects breathing and digestion due to thick mucus building up in the body, especially the lungs and digestive system An X-linked disorder in which the blood doesn’t clot correctly A blood disorder caused by a recessive gene that mostly affects African American; deformed blood cells affect the ability of the blood to transport oxygen. An X-linked chromosomal disorder caused when all or part of one of the X chromosomes is lost before or soon after conception that affects cognitive functioning and sexual maturation. Infertility and a short stature may be noted. A disorder caused by a recessive gene in which children cannot metabolize the amino acid phenylalanine An X-linked chromosomal disorder caused when an extra X chromosome is present. It may result in being taller than average, learning difficulties, decreased muscle tone, seizures, and kidney problems. A fatal neurological disorder caused by a dominant gene; onset occurs in middle adulthood An X-linked disorder that causes weakening of the muscles resulting in an inability to move, wasting away, and possible death. When the individual lacks melanin and processes little to no pigment in the skin, hair, and eyes. Vision problems can also occur. A condition characterized by a third chromosome on the 21st pair. Affected individuals have some degree of intellectual disability, characteristic facial features, often heart defects, and other health problems.