Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) Save
ICD-10 code: Q93.0
Disease category: Q93: Monosomies and deletions from the autosomes, not elsewhere classified
Understanding Whole Chromosome Monosomy, Nonmosaicism (Meiotic Nondisjunction)
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) is a chromosomal abnormality that occurs when a person has only one copy of a particular chromosome instead of the usual two copies. This condition arises due to the failure of the chromosomes to separate properly during meiosis.
Chromosomes are the structures that carry genetic material in the form of genes. Normally, humans have 23 pairs of chromosomes (46 chromosomes in total). When there is a whole chromosome monosomy, one of the pairs of chromosomes is missing, and the person only has 45 chromosomes instead of 46.
The most common whole chromosome monosomy is Turner syndrome, which occurs when a female has only one X chromosome instead of the usual two X chromosomes. This condition affects about 1 in 2,500 female births. Other types of whole chromosome monosomy include monosomy Xp, monosomy 13, monosomy 18, and monosomy 21.
Nonmosaicism means that the whole chromosome monosomy is present in all cells of the body. This is in contrast to mosaicism, where the chromosome abnormality is present in only some cells.
Symptoms
The symptoms of whole chromosome monosomy vary depending on the specific chromosome that is missing and the severity of the condition. In Turner syndrome, common symptoms include:
- Short stature
- Lack of ovarian development
- Heart defects
- Learning difficulties
- Delayed puberty
Other types of whole chromosome monosomy may cause different symptoms. Monosomy 13, for example, is associated with severe intellectual disability and physical abnormalities.
Diagnosis
Whole chromosome monosomy can be diagnosed through genetic testing, which involves analyzing a sample of the person's blood or other tissue to look for abnormalities in the chromosomes.
Conclusion
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) is a chromosomal abnormality that can cause a range of symptoms depending on the specific chromosome that is missing. It is typically diagnosed through genetic testing and may require ongoing medical care and support.
Treatment of Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction):
Whole Chromosome Monosomy Treatment Options for Meiotic Nondisjunction
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) is a rare chromosomal abnormality that occurs when a person has only one copy of a particular chromosome instead of the usual two copies. This condition can lead to a range of physical and developmental abnormalities, including intellectual disabil...
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