Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome

Abstract

The supernumerary bisatellited chromosome causing the "cat eye" syndrome (CES) is of chromosome 22 origin and consists of an inverted duplication of the 22pter-->22q11.2 region. To determine the extent of involvement of band q11.2 on the bisatellited chromosome, copy number assessment of sequences homologous to cloned lambda immunoglobulin (lambda Ig) gene region probes was carried out on DNA from individuals with CES using densitometric analysis of Southern blots. None of the 10 lambda Ig sequences studied was found in increased copy number in DNA from any of the 10 CES individuals tested, indicating that these sequences are not present on the supernumerary chromosome. The breakpoints involved in the generation of the bisatellited supernumerary chromosome associated with CES are therefore proximal to the lambda Ig gene region.