Research Paper Volume 13, Issue 2 pp 2135—2148

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

Karyotype, CMA, and FISH analyses results for fetus 1. The red arrow identifies sSMC. (A) G-banding, and (B) C-banding identified the marker as a pseudoisodicentric chromosome. (C) N-banding demonstrated a bisatellited chromosome. (D) SNP array analysis revealed a 1.5 Mb gain in 22q11.1q11.21 with a copy number of four (E) and (F) FISH further clarified that the karyotype of fetus 1 was 47,XY,+mar. ish idic(22)(q11.1q11.2)(RP11-958H20++).

Figure 1. Karyotype, CMA, and FISH analyses results for fetus 1. The red arrow identifies sSMC. (A) G-banding, and (B) C-banding identified the marker as a pseudoisodicentric chromosome. (C) N-banding demonstrated a bisatellited chromosome. (D) SNP array analysis revealed a 1.5 Mb gain in 22q11.1q11.21 with a copy number of four (E) and (F) FISH further clarified that the karyotype of fetus 1 was 47,XY,+mar. ish idic(22)(q11.1q11.2)(RP11-958H20++).