The term monosomy refers to a genetic disorder in which an individual is missing one copy of a chromosome. The spelling of monosomy is derived from the Greek words "mono", meaning one, and "soma", meaning body or chromosome. The IPA phonetic transcription for monosomy is /mɑːnoʊsəmi/, with emphasis on the second syllable. The correct pronunciation includes the long "o" sound in the first syllable, followed by a short "o" sound in the second syllable, and emphasis on the letter "s".
Monosomy is a genetic disorder characterized by the absence or loss of one copy of a particular chromosome in a person's cells. In a normal human cell, there are two copies of each chromosome, one inherited from the mother and one from the father, resulting in a balanced genetic makeup. However, in cases of monosomy, there is a lack of one of these pairs, leading to an imbalance in genetic material.
This condition typically arises due to errors during cell division, where a chromosome is either lost entirely or a fragment is lost. Monosomy can affect any chromosome, but it is most commonly observed with sex chromosomes, such as Turner syndrome, where a female is born with only one X chromosome instead of the normal two.
The consequences of monosomy can vary depending on which chromosome is involved and the specific genes carried on that particular chromosome. The loss of genetic material can lead to a wide range of physical and developmental abnormalities that can manifest differently in each affected individual. Symptoms may include growth and developmental delays, intellectual disabilities, organ malformations, and hormonal imbalances, among others.
Monosomy is typically diagnosed through genetic testing, such as karyotyping, which allows for the identification of missing or abnormal chromosomes. While there is currently no cure for monosomy, management of symptoms and associated health concerns through early intervention, medical monitoring, and supportive care can help improve the quality of life for individuals with this condition.
The word "monosomy" is derived from the Greek words "monos", meaning "one", and "soma", meaning "body" or "chromosome". In genetics, "monosomy" refers to a condition in which an individual has only one copy of a particular chromosome, instead of the typical two copies.