[Partial trisomy 18 (pter leads to q122) of maternal origin (author's transl)].
Partial trisomy of chromosome 18 (pter leads to q122) due to a maternal t(9;18) is described. The proband's phenotype which includes many features of Edward's syndrome, is compared to other cases of partial trisomy 18 already reported.
D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle 18 (pter leads to q122) d'origin maternelle.