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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题名:	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
贡献者:	生物科技學系
关键词:	11q duplication;BAC;E2;FISH;FSH;LH;OMIM;Online Mendelian Inheritance in Man;Primary amenorrhea;X-autosome translocation;Xq deletion;Xq duplication;aCGH;array comparative genomic hybridization;bacterial artificial chromosome;del;deletion;der;derivative chromosome;dup;duplication;estradiol;fluorescence in situ hybridization;follicle stimulating hormone;luteinizing hormone;t;translocation
日期:	2014-02
上传时间:	2014-06-05 04:09:12 (UTC+0)
摘要:	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. Copyright © 2013 Elsevier B.V. All rights reserved.
關聯:	GENE
显示于类别:	[國際企業學系] 期刊論文

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