| Metadata | |
|---|---|
| ID | DOID:0111763 |
| Name | 46,XX sex reversal 2 |
| Definition | A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. https://www.ncbi.nlm.nih.gov/pubmed/8262517, https://www.ncbi.nlm.nih.gov/pubmed/21208124 |
| Xrefs | |
| Synonyms |
chromosome 17q24 dupication syndrome [EXACT] SRXX2 [EXACT] |
| Parent Relationships |
is_a 46,XX sex reversal |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |