Unilateral radial aplasia and trisomy 22 mosaicism.
Open Access
- 1 December 1981
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (6) , 473-476
- https://doi.org/10.1136/jmg.18.6.473
Abstract
A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.Keywords
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