Publication: Submicroscopic duplication of 8q24.3 region is a potential candidate for disorders of sex development
Program
KU-Authors
KU Authors
Co-Authors
Dilek F.N.
Perçin E.F.
Ergün M.A.
Saka N.
Advisor
Publication Date
Language
English
Type
Journal Title
Journal ISSN
Volume Title
Abstract
Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the gonads. Genetic alterations in ten unrelated females with complete 46, XY gonadal dysgenesis (GD) were analyzed using an Array 2.7 M platform with whole genome coverage. The analysis result suggested that the most significant region maps to chromosome 8q24.3 which were previously reported by another independent study with a similar patient cohort and this region being probable candidate related to complete 46, XY GD.
Description
Source:
Genetic Counseling
Publisher:
Editions Medecine et Hygiene
Keywords:
Subject
Biotechnology, Applied microbiology, Genetics, heredity, Medical ethics, Medicine, Research and experimental medicine