The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients-Reference-Cited by-同舟云学术

The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients

Published:1997-01 Issue:2 Volume:1 Page:99-108
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

McDONALD-McGINN DONNA M.,LaROSSA DON,GOLDMUNTZ ELIZABETH,SULLIVAN KATHLEEN,EICHER PEGGY,GERDES MARSHA,MOSS EDWARD,WANG PAUL,SOLOT CYNTHIA,SCHULTZ PATRICIA,LYNCH DAVID,BINGHAM PETER,KEENAN GREGORY,WEINZIMER STUART,MING JEFFREY E.,DRISCOLL DEBORAH,CLARK BERNARD J.,MARKOWITZ RICHARD,COHEN ALAN,MOSHANG THOMAS,PASQUARIELLO PATRICK,RANDALL PETER,EMANUEL BEVERLY S.,ZACKAI ELAINE H.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.1997.1.99

Reference50 articles.

1. Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

2. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2

3. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

4. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association.

5. A deletion in chromosome 22 can cause digeorge syndrome

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