Case Report

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

Figure 6

(a) X chromosome diagram. (b) In orange brackets, size of deletion in long arm of X chromosome is delimited. No aberrations in short arm were informed. (c) The location of different genes (FANCB and ACE2) is marked in diagram of X chromosome (short arm). Duplication informed by MLPA involves the entire PAR1 and spread until FANCB gene (red dashed arrow). ACE2 gene (blue dashed arrow) is located next to FANCB. The activity of ACE2 was measured by ELISA methodology.

(a) Normal X chromosome structure
(b) Estimated size of deletion according to karyotype (G- banding chromosome)
(c) Location of ACE2 gene in short arm