Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1997;8(4):327-34.

2q35qter duplication syndrome: phenotypic definition

P Grammatico  1 , C Di Rosa, R Rinaldi, M Roccella, F Cupilari, T Sbezzi, G Del Porto
Affiliations
  • PMID: 9457503
Case Reports

2q35qter duplication syndrome: phenotypic definition

P Grammatico et al. Genet Couns. 1997.

Abstract

Two sibs with multiple congenital anomalies and severe mental retardation were found to have a 2q35qter duplication as a result of a balanced maternal translocation. The clinical features of our two cases are compared with those reported in literature as having either a 2q35qter duplication or a wider duplicated segment without the involvement of any other chromosome deletion or duplication. The typical phenotype is described considering the characteristic clinical features as: hypotonia, hypertelorism, short and beaked nose, flat nasal bridge, thin upper lip, micrognathia, low set and dysmorphic ears, clinodactyly finger V and cryptorchidism.

PubMed Disclaimer

Publication types