A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
Figure 2
Cytogenetics and FISH analysis of proband and father. ((a)–(c)) and (d-f) show the analysis of the proband and father, respectively. Ideograms of chromosomes 9 and 19 show that part of region 9q34.3 is inserted into region 19q13.4 in the proband (a), and the father is a carrier of a balanced insertional translocation (panel d). FISH analysis used probes for 9pter (305J7-T7), 9qter (D9S325), 19pter (129F16/SP6), 19qter (D19S238E), 19q13 (GLTSCR1/GLTSCR2/CRX), while 17cen and 17q used control probes ((b)–(c) for the proband, and panels (e)–(f) for the father). These panels confirm that the part of region 9q34.3 is inserted into region 19q13.4. The subtelomeres of chromosome 19 were intact (the probes for 19pter (129F16/SP6) and 19qter (D19S238E) were used; image not shown).
