Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).
- 1 April 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (2) , 148-151
- https://doi.org/10.1136/jmg.15.2.148
Abstract
A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed that they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was consistent with partial trisomy 18,46,XY,-21,+der(21),t(18;21)(18pter.fwdarw.18q21::21q22.fwdarw.21qter)mat.Keywords
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