title: Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis.
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.
authors.affiliation: Department of Pediatrics, Jichi Medical School, Tochigi-ken, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: N
authors.initials: N
authors.lastname: Oguro
authors.forename: T
authors.initials: T
authors.lastname: Nara
authors.forename: H
authors.initials: H
authors.lastname: Horita
authors.forename: N
authors.initials: N
authors.lastname: Niitsu
authors.forename: S
authors.initials: S
authors.lastname: Imaizumi
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011707:Pyloric Stenosis / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements