Ring chromosome 21. Observation in a female infant.
A case of a female infant with karyotype 46,XX,r(21)/45,XX,-21 is reported. From comparison of the phenotypic anomalies with the other similar cases the large variability of the 21q- syndrome is evident.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D012303:Ring Chromosomes