Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

Abstract Background Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or ear...

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Bibliographic Details
Main Authors: Jinying Wu, Meifang Lei, Xuetao Wang, Nan Liu, Xiaowei Xu, Chunyu Gu, Yuping Yu, Wei Liu
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Italian Journal of Pediatrics
Subjects:
Atypical Prader-Willi syndrome
Imprinting defect
Mosaicism
Multi-technology combined diagnosis
Case report
Online Access:https://doi.org/10.1186/s13052-022-01398-0

Internet

https://doi.org/10.1186/s13052-022-01398-0

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