A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Figure 1

(a) Prenatal fetal karyotype. The prenatal fetal karyotype revealed a 1q43 deletion most probably terminal. Arrow points to the deleted region of the long arm of chromosome 1. (b) Array-CGH results indicating the terminal deletion chromosome 1. (c) Array-CGH analysis illustrating in depth the de novo terminal deletion (highlighted) of approximately 8 Mb in size on the long arm of chromosome 1 at chromosomal band 1q43 extending to band 1q44 (location: 241,178,091–249,224,121 using build GRCh37 (hg19)).