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monosomy
This term is a precise medical and genetic descriptor used primarily in clinical pathology and cytogenetics. It describes a specific type of aneuploidy where a single chromosome is missing from a homologous pair, leading to a total of 2n-1 chromosomes. Because it describes a specific biological state, it is used in highly formal, scientific registers.
In a clinical setting, monosomy is typically contrasted with trisomy (the presence of an extra chromosome). While some monosomies are lethal during embryonic development, others result in specific genetic syndromes. The term is used as a diagnostic label rather than a descriptive adjective.
Meanings
The condition of having only one copy of a particular chromosome instead of the usual pair.
The patient was diagnosed with monosomy 7, a chromosomal abnormality often associated with myeloid neoplasms.
Examples
Turner syndrome is a well known example of monosomy involving the X chromosome.
The lab results confirm a case of autosomal monosomy.
Could this specific monosomy be the cause of the developmental delays?
Most cases of autosomal monosomy are incompatible with life.
Most cases of autosomal monosomy are incompatible with life.
The researcher noted that monosomy often results from nondisjunction during meiosis.
The researcher noted that monosomy often results from nondisjunction during meiosis.
I wonder if this patient has a partial or complete monosomy.
The karyotype clearly shows a monosomy of chromosome 21.
The karyotype clearly shows a monosomy of chromosome 21.
We need to determine if the monosomy is present in all cells or only a subset.