A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation |
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| Authors: | Rooryck Caroline Burgelin Ingrid Stef Marianne Taine Laurence Thambo Jean-Benoît Lacombe Didier Arveiler Benoît |
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| Affiliation: | aService de Génétique Médicale, CHU de Bordeaux, Bordeaux, France;bLaboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Bordeaux, France;cService de Cardiologie Pédiatrique, CHU de Bordeaux, Pessac, France |
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| Abstract: | 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. |
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| 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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