A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation

作者：Rooryck Caroline^*; Burgelin Ingrid; Stef Marianne; Taine Laurence; Thambo Jean Benoit; Lacombe Didier; Arveiler Benoit

来源：European Journal of Medical Genetics, 2008, 51(1): 74-80.

DOI：10.1016/j.ejmg.2007.09.003

• 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

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.

• 出版日期2008-2