A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review

• Үндсэн зохиолчид: Adela Chirita Emandi (Зохиогч), Andreea Iulia Dobrescu (Зохиогч), Gabriela Doros (Зохиогч), Capucine Hyon (Зохиогч), Diana Miclea (Зохиогч), Calin Popoiu (Зохиогч), Maria Puiu (Зохиогч), Smaranda Arghirescu (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2019-07-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a par...