ArticleFrontiers in genetics2025
Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Renpenning syndrome is a rare X-linked genetic disorder caused by variants in the PQBP1 gene, but the information about its prenatal presentation is very limited. A 35-year-old woman experienced two male pregnancies with thickened nuchal translucency (NT) (5.5 mm and 5 mm). She went to our prenatal diagnosis center for the current natural conception during the second pregnancy. Trio-whole exome sequencing (TrioWES) of chorionic villus biopsy revealed a 666-bp genetic deletion (chrX:48755195-49760422) in the fetus, inherited from the mother, which included
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