Fig. 1

Three kinds of peripheral blood lymphocytes karyotypes of the proband and his parents. a: Karyotype analysis of the proband’s father showed no significant chromosomal abnormalities (46, XY). b: The karyotype of the proband’s mother was 46,XX,?inv(21)(p11q21). c: A bisatellited dicentric sSMC was observed in the proband. The arrows indicate the chromosomal defects