Fig. 1.

De novo large deletion on the X chromosome encompasses the IRAK1 and MECP2 genes. (A) Pedigree of the patient’s family; generations are designated by roman numerals (I, II); the patient is represented by a black square and indicated by “P.” Asterisks indicate the individuals tested for Xq28 deletion. (B) Schematic representation of the X chromosome and the array-CGH profile of the patient’s chromosome Xq28, showing the hemizygous deletion. The experiment was performed with a 180K platform (180K SurePrint G3 Human Kit; Agilent Technologies). A schematic representation of the gene content of the 101-kb deleted region is shown (Bottom).