Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome

Abstract

We describe two cases in which a minute supernumerary marker chromosome (SMC) was identified in addition to a larger pseudodicentric chromosome. Case 1, a phenotypically normal male, had mosaicism for a psu dic(15;15)(q11.2;q11.2) chromosome and a minute SMC. Fluorescence in situ hybridization (FISH) showed that the minute SMC was D15Z1 positive, indicating a chromosome 15 origin. Case 2 was a 22-week fetus with mosaicism for a normal and two abnormal cell lines: one had a psu dic (22;22)(q11.2;q11.2) chromosome containing euchromatin, usually associated with cat eye syndrome; the other a minute SMC. The minute SMC was positive with the D14Z1/D22Z1 α-satellite probe, indicating a chromosome 14 or chromosome 22 origin. Deletion of centromeric material was proposed as one mechanism of centromere inactivation in dicentric chromosomes. The origin of these two minute SMC suggests that they were derived from one of the centromeres of the larger pseudodicentric chromosome. These stable minute SMC may be the by-product of a deletion event inactivating one centromere of a dicentric chromosome to generate a pseudodicentric chromosome. Alternatively, the minute SMC may originate from further rearrangement of the larger pseudodicentric chromosome. These cases suggest possible mechanisms for the origin of minute SMC. © 2001 Wiley-Liss, Inc.