Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.

Abstract

This communication describes the fourth known patient with a terminal long arm deletion of chromosome 10. The karyotype is : 46,XX,del(10)(q26). The clinical findings in the patient included intrauterine growth retardation, microcephaly, truncus arteriosus type 1, respiratory distress and craniofacial dysmorphism. Although review of the limited number of patients with a similar deletion reveals several common features, there is yet insufficient evidence to define a distinct 10q--syndrome.