Fig. 1

Chromosomal microarray analysis results revealed 1q21.1q21.2 microdeletion/microduplication in eleven fetuses. Five fetuses had 1q21.1q21.2 microdeletion (with the fragment size ranging between1.8–2.8 Mb) and six fetuses had microduplication (with the fragment size ranging between 0.86–2.9 Mb). These alterations occurred in the 1q21.1q21.2 region, which included the GJA5 and GJA8 genes. The dotted box indicates the genomic location of the 1q21.1 chromosome microdeletions/microduplications in the Online Mendelian Inheritance in Man (OMIM) database, green box indicates the 1q21.1 recurrent region (BP2-BP3) in the ClinGen database, and blue box represents the 1q21.1 recurrent region (BP3-BP4) in the ClinGen database