Question

What is turners syndrome?

Answer 1

Hint: Chromosomal abnormalities are genetic illnesses caused by a change in one or more chromosomes, or by an aberrant chromosome layout. The following are the various types of chromosomal abnormalities: aneuploidy and polyploidy.
In humans, trisomy refers to the presence of an additional copy of a chromosome in one of the pairs, while monosomy refers to the absence of one of the chromosomes from the pair.

Complete answer:
Turner syndrome is a female-specific genetic condition caused by a partial or total deletion of one of the X chromosomes. Turner syndrome is also known as monosomy of the X chromosome. Turner syndrome is a developmental disorder that puts children at risk for a number of diseases.
Turner syndrome causes females to have a delayed sexual development. They are largely sterile, have a small stature, and webbing of the skin around the neck. Apart from these, a person with Turner Syndrome may have cardiac issues, hearing impairment, vision loss, and so on.
Causes:
Turner syndrome is a hereditary condition. It's caused by sex chromosomal aneuploidy. In all or part of the cells, one X chromosome is absent. This is a condition that only females are born with.
Monosomy of X- One X chromosome has been completely lost. The aberrant cell division during gamete production causes this. A sex chromosome is not found in eggs or sperm. People with this kind of Turner syndrome have \[45\] chromosomes in all of their cells because one of their X chromosomes is missing.
Mosaicism- When the sex chromosome is lost during mitosis following fertilisation, i.e., during the zygote's growth, some cells have \[45\] chromosomes while others have normal \[46\] chromosomes.
When chromosome loss happens early in development, a large number of cells with \[45\] chromosomes are produced, resulting in Turner syndrome symptoms.
X chromosome abnormality- Two X chromosomes are present in the cells in \[20\% \] of Turner syndrome patients, but one X chromosome has an aberrant shape.
This could be owing to the presence of a ring chromosome, which is a circular chromosome with connected ends.
Symptoms-
1. Drooping eyelids, a narrow palate, tiny jaws, and large earlobes are all common face traits.
2. Puberty is delayed and growth is inconsistent.
3. There are no regular growth spurts.
4. Hypothyroidism and hypertension are common conditions.
5. Osteoporosis is caused by a lack of oestrogen.
6. Hearing loss due to a chronic middle ear infection.
Diagnosis-
1. Turner syndrome can be detected during pregnancy using ultrasound or specialised testing such as amniocentesis to determine the foetal karyotype.
2. Swelling in the hands and feet, heart or renal problems, a webbed neck, and a broad chest with widely spaced nipples can all be signs of Turner syndrome at birth.
Treatment-
Turner syndrome has no known cure. Whatever treatment is given, it is for Turner syndrome consequences such as sexual development, hearing and visual impairment, and infertility.
Preventive care can help keep illnesses like heart problems and thyroid problems under control.

Note:
Functions of chromosomes-
The primary function of chromosomes is to transmit genetic information from one generation to the next. They also serve as a guiding force in the growth, reproduction, repair, and regeneration processes, all of which are critical for their existence.
DNA is protected by chromosomes from becoming twisted and damaged.
Histone and non-histone proteins play a role in gene regulation.