Fig. 1: Clinical and genetic findings of the patient.
From: Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
A, B Brain magnetic resonance imaging at 8 days of age. T2-weighted axial A and sagittal B images show lobar HPE. C Multicolor FISH of the patient. An unbalanced translocation at 45,XY,der(18)t(18;21),-21 was revealed. The yellow box shows -21, and the arrow indicates der(18)t(18;21). D, E Array CGH of the patient. The vertical axis represents the chromosomal position, while the horizontal axis shows the fold change in copy number variation. Array CGH revealed 45,XY,der(18)t(18;21)(p11.2;q21.3),-21, 13.8-Mb deletion at arr[GRCh37] 18p11.32p11.21(131,700_13,935,908)×1 D and 12.7-Mb deletion at arr[GRCh37] 21q11.2q21.3(14,957,733_27,609,147)×1 E.
