Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 51, Issue 1, Pages 74-80Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2007.09.003
Keywords
17q21.32 deletion; 17q Partial monosomy; array-CGH; HOXB cluster; cleft palate; coarctation of the aorta; ventricular septal defect; patent ductus arteriosus; microcephaly; accessory spleen
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We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes. (c) 2007 Elsevier Masson SAS. All rights reserved.
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