Zen Paulo R G, Riegel Mariluce, Rosa Rafael F M, Pinto Louise L C, Graziadio Carla, Schwartz Ida V D, Paskulin Giorgio A
Eur J Med Genet. 2010 Sep-Oct;53(5):333-6. doi: 10.1016/j.ejmg.2010.06.008. Epub 2010 Jun 22.
We report on the first case of a child with a de novo 7q terminal deletion [46,XX,del(7)(q35 → qter)] presenting esophageal stenosis. This cytogenetic abnormality was confirmed by FISH, using subtelomeric probes, and by a whole-genome array-CGH assay. The child also had phenotypic features previously described in patients with a similar deletion, as growth retardation, microcephaly, coloboma of papilla, ptosis, hearing loss, urinary tract anomalies, partial agenesis of sacrum, hypotonia and neuropsychomotor delay. The odontoid hypoplasia identified, in similarity with the esophageal stenosis, represents an uncommon finding. This report is also the first clinical description of a patient with an abnormality involving the sonic hedgehog gene and an esophageal alteration. It is discussed the possibility of a specific association between them, according to some results observed in studies with animal models.
我们报告了首例患有新发7号染色体长臂末端缺失[46,XX,del(7)(q35→qter)]并出现食管狭窄的儿童病例。这种细胞遗传学异常通过使用亚端粒探针的荧光原位杂交（FISH）以及全基因组阵列比较基因组杂交（array-CGH）分析得以证实。该患儿还具有先前在类似缺失患者中描述的表型特征，如生长发育迟缓、小头畸形、视乳头缺损、上睑下垂、听力丧失、泌尿系统异常、骶骨部分发育不全、肌张力减退和神经精神运动发育迟缓。与食管狭窄相似，所发现的齿状突发育不全是一种罕见的表现。本报告也是首例关于涉及音猬因子基因异常及食管改变患者的临床描述。根据在动物模型研究中观察到的一些结果，讨论了它们之间存在特定关联的可能性。
