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...
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: | |
Online Access: | http://link.springer.com/article/10.1186/s12887-020-02049-1 |
Similar Items
-
Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype
by: V.R. Rodríguez, et al.
Published: (2008-08-01) -
Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings
by: Chih-Ping Chen, et al.
Published: (2010-12-01) -
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
by: Go Hun Seo, et al.
Published: (2016-01-01) -
Distal interstitial 1p36 deletion syndrome in a case of global developmental delay with multiple congenital malformations
by: Suvarna Magar, et al.
Published: (2020-01-01) -
Deep Phenotyping in 1p36 Deletion Syndrome
by: Youngkyu Shim, et al.
Published: (2020-10-01)