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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.
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age.
While prognosis is highly variable and dependent on various factors including these mutations, the average 5-year relative survival is 86.1%. [85] Telomere length has been suggested to be a valuable prognostic indicator of survival. [86] In addition, a person's sex has been found to have an impact on CLL prognosis and treatment efficacy.
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands ...
1q21.1 duplication syndrome; 13q deletion syndrome; ... Drug reaction with eosinophilia and systemic symptoms; Dry eye syndrome; Duane syndrome; Duane-radial ray ...
Amy Schumer Jamie McCarthy/Getty Images for Good+Foundation Amy Schumer feels “reborn” after being diagnosed with exogenous Cushing syndrome. Schumer, 42, confirmed her medical diagnosis in ...
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
Distal 18q-is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]