Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques
Partial karyotypes from the family. (a) II:2, (b) II:4, and (c) I:1: chromosomes 4 and 15 with GTG banding. (d) and (e) Partial metaphases from the father showing chromosome 15 and der(15) associated with acrocentric chromosomes. (f) Group D metaphase chromosomes from the father demonstrating active Ag-NOR in all chromosomes, including der(15). (g) II:2 and (h) II:4 FISH with LSI WHSCR1 (orange), subtelomeric 4p (green) probes and controls CEP 4 (green), 4q subtelomeric (orange), 21q (orange/green) and LSI AML1 (aqua), showing the absence of both 4p signals on one chromosome 4. (i) I:2 (father) FISH with ToTelVysion mixtures 4 and 10, showing a green 4p subtelomeric signal on 15p.