@article {Niazi148, author = {M Niazi and D V Coleman and P Salda{\~n}a-Garcia}, title = {Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).}, volume = {15}, number = {2}, pages = {148--151}, year = {1978}, doi = {10.1136/jmg.15.2.148}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/15/2/148}, eprint = {https://jmg.bmj.com/content/15/2/148.full.pdf}, journal = {Journal of Medical Genetics} }