New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

Overview

Journal Sex Dev

Specialty Social Sciences

Date 2010 Sep 8

PMID 20820110

Citations 15

Authors

A Bashamboo

S Ledig

P Wieacker

J C Achermann

J Achermann

K McElreavey

Affiliations

Soon will be listed here.

Abstract

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD.

Citing Articles

Innervation of internal female genital organs in the pig during prenatal development.

Franke-Radowiecka A, Prozorowska E, Zalecki M, Jackowiak H, Kaleczyc J J Anat. 2019; 235(5):1007-1017.

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GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’.

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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

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