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a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying

genetic information in the form of genes.

Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to
carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes
reside in the nucleus of cells. Humans have 22 pairs of numbered chromosomes (autosomes) and one
pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains two chromosomes, one coming
from each parent, which means that children inherit half of their chromosomes from their mother and
half from their father. Chromosomes can be seen through a microscope when the nucleus dissolves
during cell division. 

Chromosomal mutations

A chromosomal mutation is a type of large scale mutation. It changes the structure of a chromosome or
the total number of chromosomes in a chromosome set.

Cri-du-chat syndrome, is a chromosomal condition that results when a piece of chromosome 5 is


missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The
disorder is characterized by intellectual disability and delayed development, small head size
(microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also
have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a
rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

Down syndrome , also known as trisomy 21, is a genetic disorder caused by the presence of all or
part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to
moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with
Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can
vary widely

Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays
during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to
several life-threatening complications of the condition. Children who survive past their first year may
face severe intellectual challenges.

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