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TURNER SYNDROME

 Turner syndrome numerical chromosomal abnormality, sex chromosomal monosomy. (45,X):
Features are
 Short stature
 Moderate I.Q. (90)
 Congenital lymphoedema
 Broad chest with widely spaced hypoplastic nipples
 Short, webbed neck with low posterior hairline
 Cubitus valgus
 Renal abnormalities
 Streak ovaries in USG
 Poor secondary sexual features
Mutation
 Mutation is a permanent change of the nucleotide sequence of the human genome elements.
 Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused
by radiation or chemical mutagens), errors in the process of replication, or from the insertion or
deletion of segments of DNA by mobile genetic elements. 
 Mutations may or may not produce discernible changes in the observable characteristics
(phenotype) of an organism.
 Mutations play a part in both normal and abnormal biological processes including:
 evolution, cancer, and the development of the immune system, including junctional diversity.
 Mutation can result in several different types of change in sequences.
 Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene
from functioning properly or completely.

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