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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Autors principals:	Sireteanu A., Voloşciuc M., Grămescu M., Gorduza Ev., Vulpoi C., Frunză I., Rusu C.
Format:	Artigo
Idioma:	Inglês
Publicat:	Sciendo 2013-12-01
Col·lecció:	Balkan Journal of Medical Genetics
Matèries:	18p - syndrome holoprosencephaly (hpe) single nucleotide polymorphism (snp) array 16p11.2 duplication
Accés en línia:	https://doi.org/10.2478/bjmg-2013-0034
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