Article
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
American journal of medical genetics. Part A - 30 Jan 2004
Saitta Sulagna C, Harris Stacy E, McDonald-McGinn Donna M, Emanuel Beverly S, Tonnesen Melissa K, Zackai Elaine H, Seitz Suzanne C, Driscoll Deborah A
Abstract excerpt
Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected parent. Here, we report two separate families with recurrence of a 22q11.2 deletion in first cousins. In each...
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