De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

• Egile Nagusiak: Cristina Gug (Egilea), Dorina Stoicanescu (Egilea), Ioana Mozos (Egilea), Laura Nussbaum (Egilea), Mariana Cevei (Egilea), Danae Stambouli (Egilea), Anca Gabriela Pavel (Egilea), Gabriela Doros (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorde...