Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.
A patient with ring chromosome 13 had some physical and stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.
D000015:Abnormalities, Multiple; D000505:Alopecia / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007621:Karyotyping; D008938:Mitosis; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy