Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome
Tóm tắt
Velo‐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
Back E, 1980, Partial monosomy 22pter→q11 in a newborn with the clinical features of trisomy 13 syndrome, Ann Génét, 23, 244
Driscoll DA, 1992, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11, Am J Hum Genet, 50, 924
FibisonWJ EmanuelBS BaleAE BudarfML BuetowKandMcBrideOW:A genetic map of 2q11 and its application to defining the critical region for DiGeorge syndrome (DGCR). (In preparation)
Goldberg R, 1985, Phenotypic overlap between cardio‐velo‐facial syndrome (VCF) and the DiGeorge sequence (DGS), Am J Hum Genet, 37, A54
Greenberg F, 1988, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly, Am J Hum Genet, 43, 605
Shprintzen RJ, 1978, A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo‐cardio‐facial syndrome, Cleft Palate J, 15, 56
Shprintzen RJ, 1981, The velo‐cardio‐facial syndrome: A clinical and genetic analysis, Pediatr, 67, 167, 10.1542/peds.67.2.167
Shprintzen RJ, 1985, The expanded velo‐cardio‐facial syndrome: additional features of the most common clefting syndrome, Am J Hum Genet, 37, A77
Stevens CA, 1990, DiGeorge anomaly and velo‐cardio‐facial syndrome, Pediatrics, 85, 526, 10.1542/peds.85.4.526
Williams MA, 1985, Male‐to‐male transmission of the velo‐cardio‐facial syndrome: A case report and review of 60 cases, J Craniofacial Genet, 5, 175