Freire Gabrielle, Russell Laura, Oskoui Maryam
Department of Pediatrics, McGill University, Montreal, QC, Canada.
Department of Human Genetics, McGill University, Montreal, QC, Canada.
J Pediatr Genet. 2013 Jun;2(2):103-7. doi: 10.3233/PGE-13055.
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies/deafness now known to be caused by CHD7 mutations. We describe a boy initially diagnosed with CHARGE syndrome who was subsequently found to have a terminal 6p deletion. Screening for 6p deletions in individuals presenting with atypical CHARGE syndrome may be warranted, with direct consequences for genetic counseling.
与6p末端缺失综合征相关的临床特征包括眼前房缺陷、听力丧失、先天性心脏异常、特征性面容以及发育迟缓。这些特征与包括CHARGE综合征在内的许多其他病症重叠。这个首字母缩略词代表异常的非随机关联，包括眼裂、心脏异常、后鼻孔闭锁、生长发育迟缓、生殖器发育不全以及耳异常/耳聋，现在已知这些是由CHD7突变引起的。我们描述了一名最初被诊断为CHARGE综合征的男孩，后来发现他有6p末端缺失。对于表现出非典型CHARGE综合征的个体，进行6p缺失筛查可能是必要的，这对遗传咨询有直接影响。
