Article
Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.
Clinical laboratory - 1 Mar 2023
Sun Weijia, Wang Linlin, Liu Tiansheng, Ouyang Luping, Qin Wangshang, Luo Jingsi, Qin Zailong
Abstract excerpt
BACKGROUND: Trisomy 18 syndrome, also called Edwards syndrome, is the second most common autosomal trisomy after trisomy 21 that is caused by the presence of an extra copy of chromosome 18. Approximately 50% of infants with trisomy 18 cannot survive for more than 1 week and about 5 - 10% of children die within 1 year after birth. The aim of this study is to describe a 4-year-old female patient of mosaic trisomy...
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