Case Reports
doi: 10.1007/BF00569983.
Partial trisomy 2q and familial translocation t(2;12)(q31;q24)
- PMID: 1262021
- DOI: 10.1007/BF00569983
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Case Reports
Partial trisomy 2q and familial translocation t(2;12)(q31;q24)
Hum Genet.
.
Abstract
Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31 leads to ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.
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