Partial monosomy 8p with minimal dysmorphic signs.
Open Access
- 1 May 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (5) , 327-329
- https://doi.org/10.1136/jmg.27.5.327
Abstract
A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.Keywords
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