Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

Figure 4

Array-CGH result of chromosome 4: 4p16.3→pter deletion. There are three icons from top to down in total (a)–(c). (a) A diagram of chromosome 4. (b) A scatter plot of a copy number; each point represents the mean copy number calculated from consecutive 100 probe sets. The baseline in the middle indicates the normal copy number level. Upward deviation from the baseline indicates amplification and downward departure from the baseline represents deletion. (c) Enlarged form of 4p16.3→pter segment at (b) region; combed region represents copy number variants (CNV) that matches deleted segment.