Ring chromosome 16: a new case |
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| Authors: | M G Vianello F Cottafava D Bartoli G Franzone R Casazzava R Gastaldi |
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| Affiliation: | II. Clinica Pediatrica, Università di Genova, Italy. |
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| 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". |
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