Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

BACKGROUND: Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/o...

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Autors principals: dos Santos, Ana Paula, Ribeiro Andrade, Juliana Gabriel, Piveta, Cristiane Santos Cruz, de Paulo, Juliana, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3827999/
https://ncbi.nlm.nih.gov/pubmed/24192396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-115
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