Partial trisomy 14q.
A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy