An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13→pter.: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome

Abstract

A female infant with partial trisomy 11p(p13→pter) resulting from a paternally inherited balanced translocation is described and compared with 14 previously reported cases of trisomy 11p. The patient had macroglossia, umbilical and inguinal hernias, hypotonia, soft and wrinkled skin, dysmorphic face, high-arched palate, hepatosplenomegaly, intestinal malrotation, Meckel's diverticulum, and mental retardation. The patient's karyotype was 46,XX,-4,+der(4), t(4;11)(q35;p13)pat. Of all 15 patients including our case, the clinical features of 13 patients with duplication of the 11p15 band resembled those of Beckwith-Wiedemann syndrome. © 1986 Business Center for Academic Societies.