TY - JOUR AU - Si, Nuo AU - Meng, Xiaolu AU - Zhao, Zhen AU - Xia, Weibo AU - Zhang, Xue PY - 2019 DA - 2019/04/29 TI - A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype JO - Journal of Translational Medicine SP - 138 VL - 17 IS - 1 AB - Genomic disorders present a wide spectrum of unrelated clinical entities that result from genomic rearrangements. Interstitial insertions requiring three points of breakage are rare genomic rearrangement events. The pseudoautosomal region PAR1, homologous between the Xp22 and Yp11 loci, has a high crossover and recombination rate. A 180 bp human-specific palindrome at Xq27.1 appears to be a hotspot for genomic rearrangement, and several genetic diseases/phenotypes associated with Xq27.1 palindrome-driven genomic rearrangement have been reported. Here we investigate a Chinese family with an extremely rare X-linked compound phenotype that remains undiagnosed. We attempt to identify underlying genetic causes by an integrated genome analysis. SN - 1479-5876 UR - https://doi.org/10.1186/s12967-019-1887-2 DO - 10.1186/s12967-019-1887-2 ID - Si2019 ER -