Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome

Wiley - Tập 44 Số 2 - Trang 261-268 - 1992
Deborah A. Driscoll1, Nancy B. Spinner2,3, Marcia L. Budarf2,3, Donna M. McDonald‐McGinn3,4, Elaine H. Zackai2,3, Rosalie Goldberg5, Robert J. Shprintzen5, Howard M. Saal6, Jonathan Zonana7, Marilyn C. Jones1, James T. Mascarello8, Beverly S. Emanuel2,3
1Departments of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Pennsylvania
2Department of Pediatrics, University of Pennsylvania School of Medicine, Pennsylvania
3Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
4Genetic Services, Children's Hospital-San Diego, San Diego, California
5Center for Craniofacial Disorders, Montefiore Medical Center, and Albert Einstein College of Medicine, Bronx, New York
6Department of Medical Genetics, Children's National Medical Center and George Washington University School of Medicine, Washington, D.C.
7Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon
8Genetic Services, Children's Hospital‐San Diego, San Diego, California

Tóm tắt

AbstractVelo‐cardio‐facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T‐cell deficiency suggesting that these 2 conditions share a common pathogenesis. Here, we report the results of cytogenetic and molecular studies of 15 VCFS patients. High ‐ resolution banding techniques detected an interstitial deletion of 22q11.21‐q11.23 in 3 patients. The remaining 12 patients had apparently normal chromosomes. Molecular analysis with probes from the DiGeorge Chromosome Region (DGCR) within 22q11 detected DNA deletions in 14 of 15 patients. In 2 families, deletions were detected in the affected parent as well as the propositus suggesting that the autosomal dominant transmission of VCFS is due to segregation of a deletion. Deletions of the same loci previously shown to be deleted in patients with DGC explains the overlapping phenotype of VCFS and the DGC and supports the hypothesis that the cause of these two disorders is the same. © 1992 Wiley‐Liss, Inc.

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Tài liệu tham khảo

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Wiley

Tập 44 Số 2

261-268

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