Figure 1.

Cytomolecular results obtained from patient 2. (A) G-banded karyotype. (B,C) Representative images of a metaphase stained for telomere sequences and chromosome 2 centromere in (B) grayscale and (C) colour. Arrow indicates ring chromosome. (D) Pedigree of patient’s family. Informative short tandem repeats (STRs) are listed on the left and the size and chromosome position of each STR is reported. The haplotype passing from the maternal grandmother (I-2), to the mother (II-2) and to the proband (III-1) is highlighted with a red rectangle.