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Ring chromosome 16: a new case
M G Vianello1, F Cottafava, D Bartoli
1II. Clinica Pediatrica, Università di Genova, Italy.
Annales De Genetique
|January 1, 1990
Abstract:
A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".