Khalifa Ola A, Walter Claudia U, Rahbeeni Z A, Verloes A
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Eur J Med Genet. 2011 Mar-Apr;54(2):173-6. doi: 10.1016/j.ejmg.2010.11.007. Epub 2010 Nov 20.
The CHARGE syndrome is a multiple congenital malformation syndrome that usually results from deletion or heterozygous loss of function mutations of the chromodomain helicase DNA-binding protein 7 (CHD7) gene at 8q12.1. Besides CHD7-related cases, some patients with CHARGE-like phenotype have been reported with chromosomal imbalances. We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay. He had duplication 8q and deletion 4q derived from paternal translocation t(4;8)(q34;q22.1). CHD7 mutation or deletion was excluded. The present report to the best of our knowledge is the only one describing an unbalanced translocation t(4;8) and CHARGE-like phenotype.
CHARGE综合征是一种多发性先天性畸形综合征，通常由8q12.1处的染色体结构域解旋酶DNA结合蛋白7（CHD7）基因缺失或杂合性功能丧失突变引起。除了与CHD7相关的病例外，一些具有CHARGE样表型的患者也被报道存在染色体失衡。我们描述了一名具有类似CHARGE综合征畸形模式的患者：后鼻孔闭锁、面部畸形（小颌畸形、眼距过宽、内眦赘皮和鼻梁凹陷、宽阔）、心血管畸形、隐睾症和发育迟缓。他有来自父系易位t(4;8)(q34;q22.1)的8q重复和4q缺失。排除了CHD7突变或缺失。据我们所知，本报告是唯一一篇描述不平衡易位t(4;8)和CHARGE样表型的报告。
