Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis.
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.
Yamamoto
Y
Y
Department of Pediatrics, Jichi Medical School, Tochigi-ken, Japan.
Oguro
N
N
Nara
T
T
Horita
H
H
Niitsu
N
N
Imaizumi
S
S
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*
D004251:DNA Transposable Elements