Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease
Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease
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DOI：
10.1016/j.jpedsurg.2007.07.030
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发表时间：
2007-11-01
影响因子：
2.4
通讯作者：
Baker, Linda A.
中科院分区：
文献类型：
--
作者：
Prieto, Juan C.;Garcia, Nilda M.;Baker, Linda A.
表型健康携带者平衡11；22易位是人类已知的最常见的非罗伯逊体质易位，其后代有患多余衍生物（22）t（11;22）综合征[der（22）综合征]的风险。我们报告2例男性多余der（22）综合征患者[47，XY,+der(22)t(11;22) [q23;qll]。2)mat]，产生22q11和11q23-qter的部分三体。这些病例扩展了der（22）综合征的表型，第一个病例强调了VACTERL的表型重叠，第二个病例将Hirschsprung病和肠道旋转不良添加到相关的肛肠异常列表中。由于der（22）综合征和猫眼综合征（22q11部分四体）在22q11上有相似的额外剂量区域，并且都典型地表现为肛门直肠表型，因此该位点可能存在肛门直肠异常的剂量敏感基因。(c) 2007年Elsevier Inc.出版
Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;qll.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus. (c) 2007 Published by Elsevier Inc.