[46,XX,r(18), + mar karyotype in the niece of a leukemic patient with trisomy 21 and cri du chat chromosome (author's transl)].

The present observation concerns a female patient with a 47,XX, r(18), + mar karyotype. The size of the ring varies from mitosis to mitosis; generally it is very small. The presence of a small marker ("minute") may explain some phenotypic differences not usually observed in the "r(18) syndrome". This patient is the niece of a trisomic 21, who showed complex chromosome anomalies during the course of an acute leukemia from which he died.