Anomalie cromosomiche

La sindrome del “Cri du chat”: qualche novità per una “vecchia” sindrome

M. Spunton, M.E. Liverani, P. Cerruti Mainardi, S. Cavani, M. Malacarne, C. Baldo, M. Pierluigi, A. Guala

2015/5 — pag. 306-312

“Cri du chat” syndrome (CdC, OMIM 123450) is classified among the rare diseases. It was described for the first time in 1963 and it is due to a deletion in the short arm of chromosome 5 (in about 90% of cases as a result of a sporadic “de novo” del...

Sindrome di klinefelter:che cosa deve sapere il pediatra?

R. Cavallo, C. Santelia, G. Tornese

2015/2 — pag. 104-110

Klinefelter syndrome (KS), characterized by the presence of at least one extra X chromosome, is the most common chromosomal abnormality in males. Nevertheless, it is highly underdiagnosed (only 25% of expected diagnoses) or is diagnosed later in li...

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...

Anemia di Fanconi con fenotipo normale

2003/4 — pag. 258

Fanconi anemia is a rare disease, with normal phenotype in a third of the cases. It is characterized by aplastic anemia/pancytopenia, macrocytosis and chromosomal abnormality, which is responsible of the high risk of cancer...