| Full text | |
| Author(s): |
Simioni, Milena
[1]
;
Monlleo, Isabella Lopes
[2]
;
Costa de Queiroz, Camila M.
[2]
;
Peixoto Gazzaneo, Ilanna Fragoso
[2]
;
Lima do Nascimento, Diogo L.
[2]
;
de Omena Filho, Reinaldo Luna
[2]
;
da Cruz Piveta, Cristiane Santos
[3]
;
de Mello, Maricilda Palandi
[3]
;
Gil-da-Silva-Lopes, Vera L.
[1]
Total Authors: 9
|
| Affiliation: | [1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil
[2] Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio - Brazil
[3] Univ Campinas UNICAMP, CBMEG, Campinas, SP - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | SEXUAL DEVELOPMENT; v. 10, n. 1, p. 23-27, 2016. |
| Web of Science Citations: | 0 |
| Abstract | |
This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of similar to 36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies described in the literature have suggested DAX1 duplication as the major cause responsible for a sex reversal phenotype. Additionally, the interaction between genes and their possible role in clinical features are presented to support the discussion on genotype-phenotype correlation in cases of syndromic XY gonadal dysgenesis. (C) 2016 S. Karger AG, Basel (AU) | |
| FAPESP's process: | 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques |
| Grantee: | Vera Lúcia Gil da Silva Lopes |
| Support Opportunities: | Regular Research Grants |