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Posted by / 15-Nov-2020 13:54

Cri du chat

The onset of the disease varies according to the etiology: congenital variants are usually diagnosed at 5 years, while acquired forms manifest at 10 years of age, on average. [11] reported that the chromosomal unbalances more frequent in cholesteatoma involve chromosomes 7, 8, and 17; chromosome 5 was not quoted. [12] observed that alterations in gene expression may play a role in the pathogenesis of cholesteatoma, but none of the 12 genes induced or upregulated cholesteatoma was located on chromosome 5p.No evidence for any increase for cancer has been previously reported in patients affected with Cd C [1].The mother of the proband was diagnosed with breast cancer at the age of 52 and died 15 years later.No data concerning the histological type or the eventual presence of mutation on the well-known cancer-associated genes BRCA1/2 are available.As the number of Cd C patients surviving into adulthood is increasing, it is of interest to know if the genetic background including the deletion of the short arm of chromosome 5 plays any additional role.

Cri du Chat syndrome (Cd C), caused by a deletion involving the short arm of chromosome 5, is observed in 1 : 15.000 to 1 : 50.000 newborns [1]. [2] reported a comprehensive review of both clinical and molecular data, suggesting that life expectancy may be normal, in the absence of major malformations.The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed.We nonetheless believe that reporting even sporadic cases of proliferative disorders in Cd C patients may increase our knowledge as to the natural history of the disease.Molecular genetic studies revealed that the development of neuroendocrine tumors involves different pathways and different abnormalities (point mutations, gene deletions, DNA methylation, and chromosomal losses and/or gains), but no reports suggest any involvement of chromosome 5p [7].She underwent surgery at the age of 50, and the histological diagnosis identifies a ductal carcinoma with necrotic areas, negative for estrogen, progesterone, and HER2/neu.

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