Additional file 1. Table S1: The bioinformatic quality index of Trio ES of the fetus and mother and Table S2: The 6.3 Mb microduplication on chromosome 20 was detected by Trio ES data of the fetus and
Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the INSR gene. We report the case of a 29-year-old pregnant woman, primigra
Maternal diabetes is a recognized risk factor for both short-term and long-term complications in offspring. Beyond the direct teratogenicity of maternal diabetes, the intrauterine environment can infl
