Ovotestes and XY sex reversal in a female with an interstitial <i>9q33.3‐q34.1</i> deletion encompassing <i>NR5A1</i> and <i>LMX1B</i> causing features of genitopatellar syndrome

Abstract excerpt

We describe our findings in a 46,XY female with a clinical features of Genitopatellar syndrome (GPS) and confirmed hermaphroditism with ovotestes, and five additional patients with GPS. GPS is a genetic disorder characterized by renal and genital anomalies, joint dislocation, aplastic or hypoplastic and often displaced patellae, minor facial anomalies, and mental retardation. The genital anomalies clearly...

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