Ring-14 and trisomy 14q in the same child.
The case of a male child with three cell lines is described: one cell line with ring chromosome 14, another trisomic for 14q, due to a derived metacentric 14q;14q, and a third one with a normal male karyotype. The clinical findings are compatible with those of the r(14) syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy