Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis
- 30 September 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (2) , 379-384
- https://doi.org/10.1002/ajmg.1320310216
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.Keywords
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