title: Diagnostic challenges of Marfan syndrome in an XYY young man.
abstract: Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to establish an appropriate diagnosis, medical follow-up, and genetic counselling.
authors: Cardiology Department, Hospital de São João, Porto, Portugal. ana.lebreiro@gmail.com
authors: Ana
authors: A
authors: Lebreiro
authors: Elisabete
authors: E
authors: Martins
authors: José Carlos
authors: JC
authors: Machado
authors: Cassiano
authors: C
authors: Abreu-Lima
mesh_terms: D001827:Body Height; D018389:Codon, Nonsense; D004452:Echocardiography; D000071837:Fibrillins; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis*; D008840:Microfilament Proteins / Q000235:genetics; D011379:Prognosis; D014997:XYY Karyotype / Q000175:diagnosis*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D000071837:Fibrillins; D008840:Microfilament Proteins