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Neoplasia in Cri du Chat Syndrome from Italian and German Databases
المؤلفون المشاركون
Guala, Andrea
Spunton, Marianna
Danesino, Cesare
Kalantari, Silvia
Kennerknecht, Ingo
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-3، 3ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-04-24
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1145361
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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