Fig. 5

Metaphase fluorescence in-situ hybridization: (A, B) FISH analysis using STS probe (green signal), KAL1 probe (red signal) and centromere X probe (aqua signal); A FISH analysis of the proband III.10 from F1 family, showing STS gene deletion (green arrow) B FISH analysis of the mother's patient II.10., showing one copy deletion of the STS gene (green arrow). The proximity of the STS (green) and KAL (red) probes makes the presence of the two probes on an X chromosome in metaphase of the mother of patient III.10 of F1, is seen with yellow/orange coloration. A nonspecific hybridization of the STS probe (green) is also observed on the patient's Y chromosome (red arrow)