Fig. 1
From: Small supernumerary marker chromosomes derived from chromosome 14 and/or 22
a A typical result after co-hybridization of D14/22Z1 (green), specific for 14p11.1-q11.1 and 22p11.1-q11.1 and D22Z4 (red), staining 22p11.2. On green signal is visible each on both chromosomes 14 and 22, as well as the sSMC (mar(22)); however, red signals are only present on both chromosomes 22 (one time, each), and two red signals on the sSMC. b, c Frequencies of sSMC cases characterized in this study (a) and in the literature (Liehr, 2020a) (b) are depicted. Percentages for cases with normal, abnormal, and unclear clinical outcomes are given for der(14 or 22), der(14) and der(22) carriers. For der(22) cases, the abnormal cases are on the left side and subdivided in cat eye syndrome (CES) and Emanuel syndrome (ES). In all pie charts the number of abnormal cases is higher in the literature (c) than cases from the authors’ single laboratory (b)