Case Reports
doi: 10.1136/jmg.15.2.148.
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22)
- PMID: 641950
- PMCID: PMC1013665
- DOI: 10.1136/jmg.15.2.148
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Case Reports
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22)
J Med Genet.
1978 Apr.
Abstract
A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.
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