Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata

We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis ident...

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Detalles Bibliográficos
Autores principales: Sireteanu, A, Voloşciuc, M, Grămescu, M, Gorduza, EV, Vulpoi, C, Frunză, I, Rusu, C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001418/
https://www.ncbi.nlm.nih.gov/pubmed/24778566
http://dx.doi.org/10.2478/bjmg-2013-0034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001418/
https://www.ncbi.nlm.nih.gov/pubmed/24778566
http://dx.doi.org/10.2478/bjmg-2013-0034

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