Partial trisomy 12q associated with a familial translocation |
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| Authors: | Lorraine Hemming Richard Brown |
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| Affiliation: | Cytogenetics Department, Mater Misericordiae Hospital, South Brisbane, Queensland, Australia;Neonatology Unit, Mater Misericordiae Hospital, South Brisbane, Queensland, Australia |
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| Abstract: | A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18. |
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| Keywords: | Bands congenital abnormalities chromosome 12q partial trisomy paternal translocation. |
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