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Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review by Weijia Sun, Linlin Wang, Tiansheng Liu, Luping Ouyang, Wangshang Qin, Jingsi Luo, Zailong Qin

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 18 with normal prenatal ultrasound findings and maternal serum markers and to investigate the relationship between the percentage of trisomic cells and the major clinical phenotypes combined with other nine patients through a review of the literature.
Methods: The patient’s peripheral blood was examined by cytogenetic G-banding technique.
Results: The cytogenetics results reported following the ISCN 2020 guideline as mos 47,XX,+18[87]/46,XX[13].
Conclusions: There is little correlation between various phenotypes of mosaic trisomy 18 and the percentage of trisomy cells in the patient’s peripheral leukocytes. Although most of fetuses with mosaic trisomy 18 have abnormal ultrasound findings, it is necessary to highlight the possibility of normal findings during the pregnancy.

DOI: 10.7754/Clin.Lab.2022.220610