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By Dr Tushar Chauhan October 06, 2022

Common Chromosomal Abnormalities

Chromosomal abnormalities are occurred by alterations in a chromosome number or structure. Here are some of the common among this category.

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Also known as trisomy 21, occurs due to the presence of an extra chromosome 21 with a pair. Patients show serious mental and developmental problems.

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Down syndrome

Also known as trisomy 13 (presence of three chromosomes 13). The condition causes serious intellectual, mental and developmental abnormalities.

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Patau syndrome

Also known as trisomy 18 (presence of three chromosomes 13). The condition causes serious congenital problems.

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Edwards syndrome

Deletion of the p arm of chromosome 5 causes Cri-du-chat syndrome. The patient cries like a cat.

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Cri-du-chat syndrome

The presence of an extra X chromosome in males causes this condition. The typical karyotype is XXY instead of XY and causes male infertility.

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Klinefelter syndrome

The absence of an X chromosome in females results in Turner syndrome (XO). The condition is associated with serious developmental problems.

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Turner syndrome

A condition with three X chromosomes (XXX) instead of 2 (XX) is known as triple X syndrome or super female. No visible serious health problems are reported.

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Triple X syndrome

The presence of an extra Y chromosome in males causes the present condition. Again no visible serious symptoms are reported in a patient.

Image credit: National Cancer Institute.


XYY syndrome

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