+: The feature is present. −: The feature is not present. N/A: not assessed or not available.
Figure Legends.
Figure 1. Pedigree of the family.
Figure 2. Chromosomal microarray analysis. (A) The result showed a 25.6 Mb duplication of 8q24.12-q24.3 of the proband denoted by a blue bar. (B) The result showed a 16.5 Mb deletion of 18q21.33-q23 of the proband denoted by a red bar. (C) The result showed a 25.6 Mb duplication of 8q24.12-q24.3 of the fetus denoted by a blue bar. (D) The result showed a 16.5 Mb deletion of 18q21.33-q23 of the fetus denoted by a red bar. (E) The normal CMA result of the proband’s mother. (F) The normal CMA result of the proband’s father.
Figure 3. Conventional karyotype analysis. (A) The G-banding result of the proband showed 46,XX,der(18)t(8;18)(q24.1;q21.3)pat karyotype with the derivative 18 chromosome denoted by a red arrow. (B) The proband’s partial karyotype of derivative 18 chromosome. (C) The G-banding result of the proband’s father showed 46,XY,t(8;18)(q23;q21.3) karyotype with the RCT between the long arm of chromosomes 8 and 18 denoted by a red arrow respectively. (D) Partial karyotype of the proband’s father with t(8;18)(q23;q21.3). (E) The G-banding result of the fetus showed 46,XX,der(18)t(8;18)(q24.1;q21.3)pat karyotype with the derivative 18 chromosome denoted by a red arrow. (F) The G-banding result of the proband’s mother showed 46,XX karyotype.
Figure 4. Enrichment analysis. (A) The GO enrichment results of deleted OMIM gene. (B) The KEGG enrichment results of deleted OMIM gene. (C) The GO enrichment results of duplicated OMIM gene. (D) The KEGG enrichment results of duplicated OMIM gene.