Harshith M Pisale

Jacobsen Syndrome with 11q Deletion, Trigonocephaly, and MYBPC3 Mutation: A Unique Case Report

Nijalingappa.K.Kalappanavar, Sonatta Monica Jose, Sonoma Maria K.B & Harshith M Pisale · Asian Journal of Case Reports in Medicine and Health · 2025

Jacobsen syndrome (JS), also known as 11q deletion disorder, is a rare chromosomal condition characterized by a wide range of congenital anomalies, developmental delays, and hematological abnormalities. This report presents the case of a 9-month-old female child with trigonocepha...