Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Obstetrics and Gynaecology Research"
DOI: 10.1111/jog.15634
Abstract: We report here a fatal oligohydramnios case, which was suspected due to autosomal recessive polycystic kidney disease at first, but genetic analysis using chorionic tissue and umbilical cord after stillbirth led to the diagnosis of… read more here.
Keywords: fatal oligohydramnios; 17q12 deletion; genetic autopsy; case ... See more keywords
SUN-129 Early Onset Of MODY 5 Due To The Haploinsufficency HNF1B Gene As Part Of 17q12 Deletion
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-129
Abstract: Abstract The 1.4 MB deletion in the 17q12 region causes a contiguous gene syndrome, which was recently named 17q12 Deletion Syndrome. This region encompasses the Hepatocyte Nuclear Factor 1ß gene (HNF1ß), which plays an important… read more here.
Keywords: deletion; region; hgba1c; 17q12 deletion ... See more keywords