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
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- 作者：Chih-Ping Chen ; Shuan-Pei Lin ; Schu-Rern Chern ; Yu-Ling Kuo ; Peih-Shan Wu ; Yu-Ting Chen ; Meng-Shan Lee ; Wayseen Wang
- 关键词：aCGH ; array comparative genomic hybridization ; FSH ; follicle stimulating hormone ; LH ; luteinizing hormone ; E2 ; estradiol ; del ; deletion ; der ; derivative chromosome ; dup ; duplication ; t ; translocation ; OMIM ; Online Mendelian Inheritance in Man ; FISH ; fluorescence in situ hybridization ; BAC ; bacterial artificial chromosome
- 刊名：Gene
- 出版年：1 February, 2014
- 年：2014
- 卷：535
- 期：1
- 页码：88-92
- 全文大小：564 K
文摘
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 11q24.3-q25 duplication, and an inverted duplication of Xq22.3-q27.1. The karyotype was 46,X,der(X)t(X;11)(q27.2;q24.3) dup(X)(q27.1q22.3). 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.