Fig. 2

Identification of an inherited interstitial insertion at Xq27.1 in the Chinese family with a rare X-linked recessive compound phenotype. a A 573 bp gap-PCR product of the distal breakpoint junction showing segregation with the phenotype in the family. b Chromatogram of the proximal (upper) and distal (lower) breakpoint junctions. Reference sequences on Xq27.1 and pseudo-autosomal region 1 (PAR1) are indicated in blue and orange, respectively. Minimal sequence homology of “A” and “GA” are observed at the breakpoint junctions. c Schematic diagram of the identified interstitial insertion in the Xq27.1 palindrome. Orange solid bar represents the 105 kb inserted fragments from the pseudo-autosomal region Xp22.33/Yp11.32. Blue head-to-head arrows represent the 180 bp human specific palindrome at Xq27.1 flanked by long interspersed elements-1 (LINE1) and long terminal repeat (LTR) sequences