De novo interstitial deletion of the long arm of chromosome 7:46,XY,del(7)(q23;q32).
A de novo interstitial deletion of the long arm of chromosome 7 is reported in a newborn boy. Our observation is compared with seven others deletions of the same bands. Clinical features showed the following: hypotonia, microcephalia, difficulty in swallowing, low-set dysplastic ears, an abnormal cry, upslanting and small palpebral fissures, and abnormalities of the hands and feet. Delayed mental and physical development is the general rule, and visceral malformations are uncommon. Our patient had genital abnormalities and a cardiac malformation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003448:Crying; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male