Skip to main content
Fig. 3 | Journal of Translational Medicine

Fig. 3

From: A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

Fig. 3

Identification of a 105 kb duplication of pseudo-autosomal region (PAR) of sex chromosomes. a SNP array analysis showing a copy number gain at the Xp22.3, homologous with Yp11.32, in male patients. b Confirmation of the duplication by qPCR assays. Positions of four designed qPCR assays are indicated at the bottom of a (black bars). Three qPCR assays within the indicated duplicated region (q1, q2 and q3) confirmed one copy number gain in male patients and female carriers in family, while qPCR with primers across the breakpoint (q4) showed no copy number changes in the family

Back to article page

Journal of Translational Medicine

ISSN: 1479-5876

Contact us