AMP case report: Identification of a single exon deletion using NGS in a patient with Perlman syndrome
December 2019—We report a case of a 34-week-gestation male infant with prenatal overgrowth born to a 19-year-old G1P0 mother. No significant family history or consanguinity were reported. The infant was delivered emergently by cesarean section due to pregnancy-induced hypertension and polyhydramnios.