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What is the most common chromosomal abnormality in humans?

The most common chromosomal abnormality in humans is Down syndrome, which is caused by an extra copy of chromosome 21. It occurs in about 1 in 700 births.


If Rett syndrome is a chromosomal abnormality what is the abnormality?

Rett syndrome is not primarily caused by a chromosomal abnormality, but rather a genetic mutation in the MECP2 gene located on the X chromosome. This gene provides instructions for making a protein that is important for brain development. Mutations in the MECP2 gene disrupt the production of this protein, leading to the characteristic features of Rett syndrome.


Why are chromosomal alterations called syndromes not diseases?

Chromosomal alterations are called syndromes because they are a collection of symptoms that tend to occur together and are associated with a specific chromosomal abnormality. This differs from diseases, which are characterized by specific pathological processes or biochemical changes in the body. Chromosomal syndromes are typically caused by genetic mutations that result in a distinct set of physical and developmental characteristics.


What is chromosomal imbalance?

Chromosomal imbalance refers to an abnormality in the number or structure of chromosomes in an individual's cells. This can be due to errors during cell division, exposure to certain chemicals or radiation, or genetic conditions. Chromosomal imbalances can lead to various health issues and developmental disorders.


What effect does chromosomal abnormalities have on babies?

Chromosomal abnormalities happen when there is an error in cell division. Often a egg or sperm could end up with too many chromosomes or not enough which could result in an abnormality such as the baby being stillborn or being born with health problems.