A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

Abstract

We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22,+der(14)(14pter→14q32.32::22q11.21→22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1. © 1989 The Japan Society of Human Genetics.