Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia. |
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| Authors: | C H Wouters T M van Bodegom H A Moll L C Govaerts |
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| Affiliation: | Department of Clinical Genetics, University Hospital Dijkzigt, Eramus University, Rotterdam, The Netherlands. |
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| Abstract: | A male infant with a deletion of 9p and concomitant duplication of 4q: 46,XY, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed a balanced maternal translocation. To our knowledge, the above cytogenetic and clinical abnormalities have not been described previously. A phenotype comparison is presented with previously reported cases concerning a deletion of 9p and a duplication of 4q. |
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