FIGURE 4.
FISH evaluations of the delXq22.3 region. (A) Metaphase chromosomes from the mother (III-4) showed FISH signal for the Xq22.3 region obtained using probe RP1-31B8 (green) on only one X chromosome. Probe for X chromosome centromeric region (RP13-34C21—red) showed FISH signals in both chromosomes. (B) Metaphase chromosomes from the proband (IV-I) showed no FISH signal for the Xq22.3 region and only one signal for the X chromosome centromeric region.