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
. 1997;1(2):99-108.
doi: 10.1089/gte.1997.1.99.

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

D M McDonald-McGinn  1 , D LaRossa, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, P Wang, C Solot, P Schultz, D Lynch, P Bingham, G Keenan, S Weinzimer, J E Ming, D Driscoll, B J Clark 3rd, R Markowitz, A Cohen, T Moshang, P Pasquariello, P Randall, B S Emanuel, E H Zackai
Affiliations

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

D M McDonald-McGinn et al. Genet Test. 1997.

Abstract

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

LinkOut - more resources