期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 11, 页码 2959-2962出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35629
关键词
Peutz-Jeghers syndrome; chromosome 19p deletion; contiguous gene deletion syndrome
We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with PeutzJeghers syndrome. The purpose of this study is to present a full clinical description of a patient with a rare 19p13.3 chromosomal deletion and review the current literature of this newly emerging contiguous gene deletion syndrome. It also supports the screening for complications of PeutzJeghers syndrome in all patients with this deletion. (c) 2012 Wiley Periodicals, Inc.
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