Sex chromosome disorders are genetic disorders resulting from disrupting, adding, or deleting sex chromosomes. The following is a list of the five most common sex chromosomal disorders that affect humans.
Klinefelters’s Syndrome
A male with Klinefelter syndrome (KS), often referred to as 47,XXY, has an extra copy of the X chromosome. The main characteristics are tiny, ineffective testicles and infertility. Most of the time, symptoms are mild, and patients are unaware they are suffering.
Some males may experience gynecomastia or partial breast growth. Other symptoms, such as increased stature, poor motor function, less body hair, are seen when the abnormality is more prominent.
Trisomy X or Triple-X Syndrome
Trisomy X, often referred to as triple X syndrome is a chromosomal disorder in which a female possesses an additional copy of the X chromosome. It is indicated by the karyotype 47,XXX. Although it affects 1 in 1,000 women, it is rarely detected despite its relative prevalence.
The affected females have physical impairments such as clinodactyly, wide-spaced eyes, learning challenges, early menopause, and increased height. Although they have typical secondary sexual characteristics, they could experience issues with ovarian maturation.
Turner Syndrome
Turner syndrome (TS), often called 45,X or 45,XO, is a genetic disorder in which a female lacks either all or part of an X chromosome. The affected individuals exhibit various signs and symptoms. A short, webbed neck, low-set ears, a receding hairline at the nape, short height, and swollen feet and hands are common congenital disabilities. They lack the secondary sexual traits of an XX female.
Jacob’s Syndrome or XYY syndrome
A male having an extra Y chromosome has XYY syndrome, also referred to as Jacob’s syndrome, is an aneuploid genetic disease. There are usually not many symptoms. These could include having acne, being taller than normal, and a higher chance of possessing learning impairments. The individual is generally healthy and has normal fertility rates.
XXYY Syndrome
Males with the XXYY syndrome have one extra X and one extra Y chromosome, a sex chromosomal abnormality. Males typically have one X and one Y chromosome (XY), while females often have two X chromosomes (XX). As a result, individuals having the gene XXYY are genotypically male. The average male has 46 chromosomes; however, those with XXYY syndrome have 48.
Some symptoms and signs of this disorder include delays in development, impediment of speech, outbursts of behaviour and mood swings, trouble learning, intellectual disability, ADHD symptoms, etc.
Read Also:
- Sex Chromosome Abnormalities
- MCQs on Chromosomes
- Important Notes for NEET Biology – Chromosome Structure
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