Neoplasia in Cri du Chat Syndrome from Italian and German Databases
Joint Authors
Guala, Andrea
Spunton, Marianna
Danesino, Cesare
Kalantari, Silvia
Kennerknecht, Ingo
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-24
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities.
Research up to now focuses on the management of the disease during childhood.
The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome.
We decided to focus on the association of the disease with proliferative disorders.
Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected.
A neoplasia was present in four patients (age 10–50 yrs), and a fifth patient developed a cholesteatoma during childhood.
It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population.
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 CdC patients may increase our knowledge as to the natural history of the disease.
In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population.
American Psychological Association (APA)
Guala, Andrea& Spunton, Marianna& Kalantari, Silvia& Kennerknecht, Ingo& Danesino, Cesare. 2017. Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145361
Modern Language Association (MLA)
Guala, Andrea…[et al.]. Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Case Reports in Genetics No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1145361
American Medical Association (AMA)
Guala, Andrea& Spunton, Marianna& Kalantari, Silvia& Kennerknecht, Ingo& Danesino, Cesare. Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145361
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145361