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

• Main Authors: Adela Chirita Emandi (Author), Andreea Iulia Dobrescu (Author), Gabriela Doros (Author), Capucine Hyon (Author), Diana Miclea (Author), Calin Popoiu (Author), Maria Puiu (Author), Smaranda Arghirescu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...