VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.
Mol Syndromol

中文翻译：

---

哥伦比亚VACTERL协会患者队列的表型特征和拷贝数变异

VACTERL协会（OMIM 192350）是一种异质性临床疾病，其特征是先天性结构缺陷，包括以下至少3个特征：椎骨异常，肛门闭锁，心脏缺陷，气管食管瘘，肾畸形和肢体缺陷。这些畸形的非随机发生和一些家族性病例提示可能与遗传因素（例如染色体改变，基因突变和遗传综合征，例如范可尼贫血（FA））相关。在这项研究中，对18例VACTERL关联的患者的临床表型及其与染色体异常和FA的关系进行了评估。为此，进行了FA的G带核型，阵列比较基因组杂交和染色体脆性测试。所有患者（女性10例，男性8例）均表现出广泛的临床表现：椎体异常13例（72.2％），肛门闭锁8例（44.4％），心脏缺陷14例（77.8％），食管闭锁8例（44.4％） ，其中10例（55.6％）患有肾脏异常，10例（55.6％）患有肢体缺陷。排除染色体异常和FA。在2种情况下，发现微改变，即del（15）（q11.2）和dup（17）（q12）可以解释表型。在8例中，拷贝数变异被分类为重要性不明且在VACTERL中尚未描述的变异。这些变体包含与重要细胞功能和胚胎发育有关的基因。6％）有四肢缺陷。排除染色体异常和FA。在2种情况下，发现微改变，即del（15）（q11.2）和dup（17）（q12）可以解释表型。在8例中，拷贝数变异被分类为重要性不明且在VACTERL中尚未描述的变异。这些变体包含与重要细胞功能和胚胎发育有关的基因。6％）有四肢缺陷。排除染色体异常和FA。在2种情况下，发现微改变，即del（15）（q11.2）和dup（17）（q12）可以解释表型。在8例中，拷贝数变异被分类为重要性不明且在VACTERL中尚未描述的变异。这些变体包含与重要细胞功能和胚胎发育有关的基因。
摩尔综合症