2016 / Editorial / General News

Io sono

  • Photographer
    Emiliano Cribari

This is a photo project on a serious rare disease that affects children; currently in Italy only 10 cases were diagnosed and even the doctors don't know this syndrom as well. So the families of these children are obliged to understand, test and treat the syntoms almost by themselves. Trisomy 9 Mosaic is a rare chromosomal disorder for which the chromosome 9 appears 3 times (trisomy) rather than 2. The term 'mosaic' indicates that the chromosome is not present in all the cells but only in some of them. Associated symptoms and results may change substantially according to the percentage of cells with the extra chromosome. However, the common features include slow growth before birth, mental retardation, heart structural malformations and distinctive features of the skull and face like a sloping forehead, and malformed ears. Individuals with trisomy 9 mosaicism can vary very much one from another. He is Giuseppe.