FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME

We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial prox imal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth retardation, microcepha ly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ea rs, and long, slender limbs. Severe ocular malformations are possibly part of the syndrome. No major phenotypic differences were seen betwee n patients with a duplication of segment 10q11 --> 10q22 and patients with a duplication 10q21 --> 10q22.