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 | Zendy

Susanne Ledig | Zendy; Olaf Hiort | Zendy; Gerd Scherer | Zendy; Michael J. Hoffmann | Zendy; G. Wolff | Zendy; Susanne Morlot | Zendy; A. Kuechler | Zendy; Peter Wieacker | Zendy

Open Access

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

Author(s) -

Susanne Ledig,

Olaf Hiort,

Gerd Scherer,

Michael J. Hoffmann,

G. Wolff,

Susanne Morlot,

A. Kuechler,

Peter Wieacker

Publication year - 2010

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/deq167

Subject(s) - gonadal dysgenesis , comparative genomic hybridization , copy number variation , karyotype , genetics , biology , dysgenesis , gene , bioinformatics , computational biology , chromosome , genome , endocrinology

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.

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