Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication‐deletion of chromosome 9 and gene dosage effect for adenylate kinase‐1

Abstract

A pericentric inversion of chromosome 9 was detected in the father of a child who had multiple congenital malformations. The karyotype of the child showed partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.