由于母亲的12;9反向插入导致9q部分重复，与幽门狭窄相关。
Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis.
作者信息
Yamamoto Y, Oguro N, Nara T, Horita H, Niitsu N, Imaizumi S
机构信息
Department of Pediatrics, Jichi Medical School, Tochigi-ken, Japan.
出版信息
Am J Med Genet. 1988 Oct;31(2):379-84. doi: 10.1002/ajmg.1320310216.
PMID:2852899
Abstract
We report on a 9-month-old boy who had duplication of the long arm of chromosome 9 [46,XY, -12, +der(12) inv ins (12;9)(p13;q32q13)mat.]. The clinical manifestations of the patient were different from those seen in distal 9q duplication. Pyloric stenosis appears to be common in cases with proximal 9q duplications.
摘要
我们报告了一名9个月大的男孩，其9号染色体长臂存在重复[46,XY, -12, +der(12) inv ins (12;9)(p13;q32q13)mat.]。该患者的临床表现与9q远端重复所见不同。幽门狭窄在9q近端重复的病例中似乎很常见。
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