Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.
Open Access
- 1 December 1988
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (12) , 851-854
- https://doi.org/10.1136/jmg.25.12.851
Abstract
A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.Keywords
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