A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

T OhnesorgJ A van den BergenD BelluoccioN Shankara-NarayanaA-M KeanA VasilarasL EwansK L AyersAndrew H Sinclair

Published in: Clinical genetics (2017)

A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.

Keyphrases

transcription factor
copy number
mitochondrial dna
stem cells
genome wide
dna methylation
germ cell
gene expression
binding protein