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Either of a pair of chromosomes in diploid cells, or a single chromosome in haploid cells, carrying genes that determine the sex and sex-linked characteristics of an organism. Most mammals, including humans, have one pair of sex chromosomes in diploid cells, designated XX in females and XY in males.
heterosomeone of a pair of chromosomes that is different in the two sexes and is involved in SEX DETERMINATION. All remaining chromosomes in a KARYOTYPE are called AUTOSOMES. In most organisms, such as mammals and DIOECIOUS plants, the female contains two identical X-chromosomes and is the HOMOGAMETIC SEX while the male contains one X and one Y-chromosome and is the HETEROGAMETIC SEX. In birds, butterflies and moths, some fish and certain plants, the situation is reversed in the two sexes. Genes located on sex chromosomes are described as showing SEX LINKAGE.
One of the thread-like structures located within the cell nucleus composed of an extremely long, double-stranded DNA (deoxyribonucleic acid) helix tightly folded around proteins called histones. Each chromosome carries genes that contain the hereditary material that controls the growth and characteristics of the body. There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but differ at the molecular level. They are called autosomal chromosomes or autosomes and are designated by a number (with chromosome 1 being the longest, followed by chromosome 2, etc.). The other pair, the sex chromosomes determines the sex of the individual. In mammals the two sex chromosomes of females are alike (homologous) and are referred to as X chromosomes. Males carry one X chromosome along with a much shorter chromosome, the Y chromosome. Each chromosome has a centromere that divides it into two arms, the short arm 'p' and the long arm 'q'. Disorders of chromosome number in which the number of chromosomes is above or below the normal (46) are called aneuploidy. Common forms of aneuploidy are trisomy in which there is one extra chromosome and monosomy in which there is one less, than the normal 46. They rarely cause specific eye diseases but affected individuals present ocular manifestations. Examples: Down's syndrome (trisomy of chromosome 21), Edwards' syndrome (trisomy 18), Turner's syndrome (monosomy 45 XO). There are other chromosome abnormalities such as translocation (one segment of a chromosome is transferred to another chromosome) as may occur in congenital anterior polar cataract, deletion (a loss of a piece of chromosome) as in aniridia, choroideremia, retinoblastoma, etc. Other cases involve damage of a chromosome (e.g. fragile X syndrome). See defective colour vision; gene; mitosis; mutation.