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A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality
M M Khalifa1, H Yamashiro, A M Duncan
1Department of Paediatrics, Queen's University, Kingston, ON, Canada.
Clinical Genetics
|June 1, 1996
Abstract:
We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.
Insights
This study describes monosomy 18 mosaicism, a new chromosome abnormality. Survival in this patient may be due to the low level of mosaicism for this condition.
Area of Science:
- Genetics
- Chromosomal Abnormalities
- Human Genetics
Background:
- Monosomy 18 is a rare chromosomal condition.
- Mosaicism involves having cells with different chromosome numbers.
- Previous reports on chromosome 18 abnormalities include ring chromosome 18.