From Surf Wiki (app.surf) — the open knowledge base

Partial monosomy 13q

Field	Value
image	Human male karyotpe high resolution - Chromosome 13 cropped.png
caption	Chromosome 13 which is involved in this condition
specialty

Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature.

Symptoms and signs

Symptoms vary from case to case, and may correlate to how much of the chromosome is missing. Symptoms that are frequently observed with the condition include:

Low birth weight
Malformations of the head
Eye abnormalities
Defects of the hands and feet, polydactyly
Reproductive abnormalities (males)
Psychological and motor retardation

References

Kardon NB. Chromosomal Disorders. In: Winters R, Lazar T, Kirchner K, Stoye K, McLaughlin MA, Rothschild R, eds. ''NORD Guide to Rare Disorders.'' 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:62-63.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genetic-disorders-with-no-omim

Want to explore this topic further?

Ask Mako anything about Partial monosomy 13q — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report