Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Figure 1

Apparently balanced translocation is accompanied by a cryptic genomic deletion (a) Conventional karyotyping revealed a reciprocal translocation involving the short arm of one chromosome 11 (11p14) and the short arm of one chromosome 12 (12p13.2), which appears to be balanced. Chromosomes 16 appear normal. (b) Array CGH study detected a significant copy number loss on chromosome 16 (q23.2-q24.1) (c) This deletion was confirmed by FISH studies using a BAC probe RP11-625B13 (red) mapped to 16q23.3 and a control probe RP11-6C20 (green) mapped to 16p13.3. (d) Genes located within the deleted region 16q23.2-q24.1 (nucleotide 79,945,820 to 85,430,304, NCBI 36/HG 18) as shown by the UCSC genome browser. These include FOX family cluster FOXF1, FOXC2, and FOXL1.