Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report

Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report

Abstract Background Monosomy 1p36 is the most common terminal deletion syndrome with an autosomal dominant pattern of inheritance. This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all...

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Bibliographic Details
Main Authors: D. Nistico’, F. Guidolin, C. O. Navarra, M. Bobbo, A. Magnolato, A. P. D’Adamo, E. Giorgio, B. Pivetta, E. Barbi, P. Gasparini, M. Cadenaro, F. Sirchia
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Pediatrics
Subjects:
1p36 deletion syndrome
Monosomy 1p36 syndrome
Germline mosaicism
Dental anomalies
Recurrent microdeletion
Intellectual disability
Online Access:http://link.springer.com/article/10.1186/s12887-020-02049-1

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http://link.springer.com/article/10.1186/s12887-020-02049-1

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