chromosomal deletion Xq22.3 (chromosome Xq22.3 centromeric deletion syndrome)

Introduction

• deletions covering the N-terminal regions of COL4A5 & COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome
• this results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome

More general terms

• chromosomal deletion