Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomalies

Abstract

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.