干旱区生态环境知识资源中心(Arid): Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

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DOI	10.1093/humrep/deq167
	Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
	Ledig, S.1; Hiort, O.2; Scherer, G.3; Hoffmann, M.1; Wolff, G.3; Morlot, S.4; Kuechler, A.5; Wieacker, P.1
通讯作者	Wieacker, P.
来源期刊	HUMAN REPRODUCTION
ISSN	0268-1161
出版年	2010
卷号	25 期号:10 页码:2637-2646
英文摘要	XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations. The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD. In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs). This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.
英文关键词	XY gonadal dysgenesis array CGH diagnostic candidate loci
类型	Article
语种	英语
国家	Germany
收录类别	SCI-E
WOS记录号	WOS:000281959200028
WOS关键词	FEMALE SEX-REVERSAL ; KB DELETION UPSTREAM ; HEDGEHOG DHH GENE ; DESERT-HEDGEHOG ; CAMPOMELIC DYSPLASIA ; TESTIS ; SOX9 ; MUTATIONS ; REGION ; SRY
WOS类目	Obstetrics & Gynecology ; Reproductive Biology
WOS研究方向	Obstetrics & Gynecology ; Reproductive Biology
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/164470
作者单位	1.Univ Munster, Inst Human Genet, D-48149 Munster, Germany; 2.Univ Lubeck, Dept Pediat & Adolescent Med, D-23562 Lubeck, Germany; 3.Univ Freiburg, Inst Human Genet, D-79106 Freiburg, Germany; 4.Practice Human Genet, D-30159 Hannover, Germany; 5.Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany
推荐引用方式 GB/T 7714	Ledig, S.,Hiort, O.,Scherer, G.,et al. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci[J],2010,25(10):2637-2646.
APA	Ledig, S..,Hiort, O..,Scherer, G..,Hoffmann, M..,Wolff, G..,...&Wieacker, P..(2010).Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.HUMAN REPRODUCTION,25(10),2637-2646.
MLA	Ledig, S.,et al."Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci".HUMAN REPRODUCTION 25.10(2010):2637-2646.