Identification of 1q21.1 microduplication in a family: A case report

Figure 1  Patient’s chromosome 1 duplication.

Figure 2 Fluorescent quantitative polymerase chain reaction showed that the patient and her mother were carriers of heterozygous duplication in FMO5, CHD1L, and GJA5 genes. A: gDNA level of FMO5 in 1q21 region; B: gDNA level of CHD1L in 1q21 region; C: gDNA level of GJA5 in 1q21 region. ^aP ≤ 0.05; ^bP ≤ 0.01; ^cP ≤ 0.001.

Figure 3  The patient’s mother and brother chromosome 1 duplication marked by a red arrow.

Figure 4  The patient’s family tree.