Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Under-diagnosis in adults is common and recognition of facial dysmorphic features can be affected by age and ethnicity. This study aims to determine the prevalence of undiagnosed 22q11.2DS in adult Chinese patients with conotruncal anomalies and to delineate… (More)
DOI: 10.1016/j.ejmg.2014.03.014

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Cite this paper

@article{Liu2014UnderrecognitionO2, title={Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.}, author={Anthony Pak-Yin Liu and Pak-cheong Chow and Pamela P. W. Lee and Gary Tsz Kin Mok and Wing-Fai Tang and Elizabeth Tak-Kwong Lau and S. S. Lam and Kelvin Yuen-kwong Chan and Anita Sik-yau Kan and Adolphus K T Chau and Y. Cheung and Yu Lung Lau and Brian Hon-Yin Chung}, journal={European journal of medical genetics}, year={2014}, volume={57 6}, pages={306-11} }