Report of a new case and clinical delineation of mosaic trisomy 9 syndrome
Open Access
- 1 October 1982
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (5) , 384-387
- https://doi.org/10.1136/jmg.19.5.384
Abstract
A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected.Keywords
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