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Greek -ῖτις (-îtis) fem. form of -ίτης (-ítēs), pertaining to, because it was used with the feminine noun νόσος (nósos, disease), thus -îtis nósos, disease of the, disease pertaining to tonsillitis-ium: structure, tissue Latin -ium, aggregation or mass of (such as tissue) pericardium
X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome Triple X syndrome
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity).
Fragile X syndrome is caused by expansion of CGG repeats in the FMR1 gene. In males without fragile X syndrome, the CGG repeat number ranges from 53 to 200 while those affected have greater than 200 repeats of this trinucleotide sequence located at the end of the X chromosome on band Xq28.3.1. [36]
The International Classification of Diseases (ICD) is a globally used medical classification used in epidemiology, health management and for clinical purposes.The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinating authority for health within the United Nations System. [1]
Radiography is an important tool in diagnosis of certain disorders. Medical diagnosis (abbreviated Dx, [1] D x, or D s) is the process of determining which disease or condition explains a person's symptoms and signs. It is most often referred to as a diagnosis with the medical context being implicit.
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]
Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4]