[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.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D003410:Cri-du-Chat Syndrome / Q000150:complications* / Q000235:genetics; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000235:genetics
Caryotype 46,XX, r(18), + mar chez la niéce d'un trisomique 21 leucémique avec chromosome du cri du chat.