Figure 2.

Cytogenetic analysis of the present patient. (a) Peripheral blood metaphase: 47,XXX (the X chromosomes are indicated with orange arrows and the chromosomes 16 with blue arrows). (b) Partial karyotype, trisomy X is shown above the red line, the pair of chromosomes 16 is shown above the blue line; the region 16p11.2 involved in the deletion identified by CMA is indicated in the ideogram. (c) A partial karyotype after FISH with a dual TUPLE1 spectrum orange/ARSA spectrum green probe (Vysis^®) to discard a deletion in 22q11.2. Both normal 22 chromosomes have red and green signals.