Monosomy: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Monosomy | |||
| image = [[File:Human_karyotype_with_bands_and_sub-bands.png|250px]] | |||
| caption = Human karyotype showing chromosomal bands | |||
| field = [[Medical genetics]] | |||
| synonyms = | |||
| symptoms = Varies depending on the specific chromosome affected | |||
| complications = Developmental delays, physical abnormalities, infertility | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Chromosomal deletion]] | |||
| risks = | |||
| diagnosis = [[Karyotype]] analysis | |||
| differential = [[Trisomy]], other chromosomal abnormalities | |||
| prevention = Genetic counseling | |||
| treatment = Symptomatic and supportive care | |||
| prognosis = Varies widely | |||
| frequency = Rare | |||
}} | |||
'''Monosomy''' is a type of [[chromosomal abnormality]] in which there is loss of one [[chromosome]] from a normal [[diploid]] organism. This can occur in any chromosome, but is most commonly seen in the [[sex chromosomes]]. Monosomy can lead to a variety of [[genetic disorders]], depending on the specific chromosome that is missing. | '''Monosomy''' is a type of [[chromosomal abnormality]] in which there is loss of one [[chromosome]] from a normal [[diploid]] organism. This can occur in any chromosome, but is most commonly seen in the [[sex chromosomes]]. Monosomy can lead to a variety of [[genetic disorders]], depending on the specific chromosome that is missing. | ||
==Causes== | ==Causes== | ||
Monosomy can occur due to a variety of reasons. The most common cause is [[nondisjunction]], which is the failure of a pair of chromosomes to separate properly during [[meiosis]]. This can result in one gamete receiving two copies of a chromosome and the other receiving none. If a gamete missing a chromosome fertilizes with a normal gamete, the resulting offspring will have monosomy. | Monosomy can occur due to a variety of reasons. The most common cause is [[nondisjunction]], which is the failure of a pair of chromosomes to separate properly during [[meiosis]]. This can result in one gamete receiving two copies of a chromosome and the other receiving none. If a gamete missing a chromosome fertilizes with a normal gamete, the resulting offspring will have monosomy. | ||
==Types== | ==Types== | ||
There are several types of monosomy, including: | There are several types of monosomy, including: | ||
* '''[[Turner syndrome]]''': This is a condition in which a female is missing one X chromosome. Symptoms can include short stature, infertility, and heart defects. | * '''[[Turner syndrome]]''': This is a condition in which a female is missing one X chromosome. Symptoms can include short stature, infertility, and heart defects. | ||
* '''[[Cri du chat syndrome]]''': This is caused by a deletion of the short arm of chromosome 5. Symptoms can include intellectual disability, delayed development, and a distinctive cry that sounds like a cat. | * '''[[Cri du chat syndrome]]''': This is caused by a deletion of the short arm of chromosome 5. Symptoms can include intellectual disability, delayed development, and a distinctive cry that sounds like a cat. | ||
==Diagnosis== | ==Diagnosis== | ||
Monosomy can be diagnosed through a variety of methods, including [[karyotyping]], [[fluorescence in situ hybridization]] (FISH), and [[comparative genomic hybridization]] (CGH). | Monosomy can be diagnosed through a variety of methods, including [[karyotyping]], [[fluorescence in situ hybridization]] (FISH), and [[comparative genomic hybridization]] (CGH). | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for monosomy. Treatment typically focuses on managing symptoms and improving quality of life. This can include physical therapy, speech therapy, and educational support. | There is currently no cure for monosomy. Treatment typically focuses on managing symptoms and improving quality of life. This can include physical therapy, speech therapy, and educational support. | ||
==See also== | ==See also== | ||
* [[Trisomy]] | * [[Trisomy]] | ||
* [[Chromosome abnormality]] | * [[Chromosome abnormality]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 05:26, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Monosomy | |
|---|---|
| |
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Varies depending on the specific chromosome affected |
| Complications | Developmental delays, physical abnormalities, infertility |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Chromosomal deletion |
| Risks | |
| Diagnosis | Karyotype analysis |
| Differential diagnosis | Trisomy, other chromosomal abnormalities |
| Prevention | Genetic counseling |
| Treatment | Symptomatic and supportive care |
| Medication | N/A |
| Prognosis | Varies widely |
| Frequency | Rare |
| Deaths | N/A |
Monosomy is a type of chromosomal abnormality in which there is loss of one chromosome from a normal diploid organism. This can occur in any chromosome, but is most commonly seen in the sex chromosomes. Monosomy can lead to a variety of genetic disorders, depending on the specific chromosome that is missing.
Causes[edit]
Monosomy can occur due to a variety of reasons. The most common cause is nondisjunction, which is the failure of a pair of chromosomes to separate properly during meiosis. This can result in one gamete receiving two copies of a chromosome and the other receiving none. If a gamete missing a chromosome fertilizes with a normal gamete, the resulting offspring will have monosomy.
Types[edit]
There are several types of monosomy, including:
- Turner syndrome: This is a condition in which a female is missing one X chromosome. Symptoms can include short stature, infertility, and heart defects.
- Cri du chat syndrome: This is caused by a deletion of the short arm of chromosome 5. Symptoms can include intellectual disability, delayed development, and a distinctive cry that sounds like a cat.
Diagnosis[edit]
Monosomy can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).
Treatment[edit]
There is currently no cure for monosomy. Treatment typically focuses on managing symptoms and improving quality of life. This can include physical therapy, speech therapy, and educational support.
