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OBJECTIVE@#To explore the basis for a child with multiple malformations and correlate her genotype with phenotype.@*METHODS@#The child was subjected to G-banding chromosomal analysis first, and low-coverage massively parallel copy number variation sequencing (CNV-seq) was used to define the aberrant region. The results were verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The child was found to have a karyotype of 46,XX,3pter+?. CNV-seq has identified a 13.5 Mb duplication at 10p13p15.3(60 466-13 556 655) and a 636 kb microdeletion at 3p26.3 (60 064-695 821). Her karyotype was the refore specified as 46, XX, ish der(3) t(3;10) (10p+,3pdim) by FISH. Both of her parents were normal, which suggested an de novo origin of the above variant.@*CONCLUSION@#The de novo 10p13p15.3 duplication probably underlies the mental retardation, development delay, dysmorphism, and gastroesophageal reflux in the child. The CHL1 gene from the 3p26.3 region may play an important role in the formation and function of the brain, which may underlie the intellectual deficit in this child.
RESUMO
Objective@#To explore the epidemiological distribution characteristics of glucose-6-phosphate dehydrogenase (G6PD) activity, incidence of G6PD deficiency in neonates and the cut-off values. @*Methods@#About 1.44 million newborns in 10 districts of Zhejiang province from March 2015 to September 2017 were included in this study. Fluorescence analysis was used to determine the G6PD activity in dried blood spots. Those with initial screening positive results were recalled and confirmed by direct ratio of G6PD to 6PGD (6-phosphogluconate dehydrogenase) to confirm the diagnosis. The results were analyzed by using nonparametric and chi-square tests. @*Results@#Significant differences of G6PD levels were found among the groups of different genders, gestational age, birth weight, blood sampling age, blood sampling season and districts (P＜0.01). The male incidence of G6PD deficiency was significantly higher than female incidence. In different regions of Zhejiang province, the highest prevalence was in Lishui (0.38%) and the lowest was in Zhoushan (0.11%), The trend of high prevalence in the south and low prevalence in the north was basically showed. When the cut-off value of G6PD activity ranged from 2.60 to 2.80 U/g Hb, the sensitivity of G6PD deficiency screening for male and female newborns was 100% and the Youden index was the highest (about 0.99). @*Conclusion@#The level of G6PD activity may be relevant to the factors of population group and period. The incidence of G6PD deficiency may be affected by different genders and different regions. The cut-off values for screening may initially set at 2.60 U/g Hb and 2.80 U/g Hb for male and female respectively.