Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation

作者：Chen Chih Ping^*; Lin Shuan Pei; Chern Schu Rern; Kuo Yu Ling; Wu Peih Shan; Chen Yu Ting; Lee Meng Shan; Wang Wayseen

来源：Gene, 2014, 535(1): 88-92.

DOI：10.1016/j.gene.2013.11.026

• 11q duplication
• Primary amenorrhea
• X-autosome translocation
• Xq deletion
• Xq duplication

We present array comparative genomic hybridization (aCGH) characterization of an unbalanced X-autosome translocation with an Xq interstitial segmental duplication in a 16-year-old girl with primary ovarian failure, mental retardation, attention deficit disorder, learning difficulty and facial dysmorphism. aCGH analysis revealed an Xq27.2-q28 deletion, an 11q243-q25 duplication, and an inverted duplication of Xq22.3-q27.1. The karyotype was 46,X,der(X)t(X;11)(q27.2;q243) dup(X)(q27.1q223). We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of primary amenorrhea and mental retardation with concomitant unbalanced X-autosome translocation and X chromosome rearrangement.

• 出版日期2014-2-1
• 单位中国医科大学