Haploid cells have only one copy of the chromosome while diploid cells have two copies of the same chromosome.
• Any deviation where one or few chromosomes are either absent or present in multiple copies is called aneuploidy.
• In polyploidy condition, the entire set of chromosome is multiplied.
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• A syndrome is a specific collection of signs or symptoms suggesting a particular disease, while a disease is a broader term that refers to abnormal physiological response to internal or external factors.
• Symptoms are subjective and signs are objective.
• Structural chromosomal abnormalities can be caused by deletion, duplication, inversion and translocation.
• Individuals with Down syndrome has an extra chromosome 21, i.e., there are three copies of chromosome 21 (trisomy 21).
• Individuals with Klinefelter syndrome has an extra X chromosome (XXY) and is observed only in males.
• Turner syndrome arises due to missing one X chromosome in affected females.
• Monogenic disease is caused by modifications in a single gene. They can be classified into the following: autosomal recessive, autosomal dominant, X-linked recessive and X-linked dominant.
• Polygenic disorder is caused by the defect or combined action of more than one gene.
• Mitochondrial inheritance and diseases are caused due to defect or mutation in the genes coding for critical enzymes present in the mitochondria.
• Four types of structural chromosomal abnormalities exist: deletion, duplication, inversion and translocation.
• Down syndrome occurs due to trisomy 21 and are characterised by features like moon like face, protruding tongue, muscular hypotonia, palmar crease and so on.
• Klinefelter syndrome occurs due to presence of an extra X chromosome in males and is characterised by tall height, enlarged breasts, coarse voice, hypogonadism and so on.
• Turner syndrome occurs due to absence of one X chromosome in females and is characterised by short stature, webbed neck, small breasts, no menstruation and so on.
