LAUSR

With the advent of comparative genomic hybridization (CGH) technology, more patients with microduplications or micro deletions are being reported. Herein, we report an 11-year-old girl with 7p22.1 microdeletion who presented with short stature and intellectual disability. She was the second born child to non-consanguineous parents, born at full term with a birthweight of 2 kg. Ventricular septal defect and patent foramen ovale were detected after birth and cardiac surgery was undertaken at one year of age (weight 7 kg). At four years of age, she was detected with intellectual disability and short stature (height of 87 cm) with a normal karyotype (46,XX).