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. 1982 Oct;19(5):384–387. doi: 10.1136/jmg.19.5.384

Report of a new case and clinical delineation of mosaic trisomy 9 syndrome

José María Sánchez 1, Nora Fijtman 1, Ana María Migliorini 1
PMCID: PMC1048928  PMID: 7143394

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.

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Selected References

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