[Ring 6-chromosome: a nonspecific clinical picture].
A new example of ring-6 chromosome is reported in a 5-year-old girl with psychomotor and growth retardation, microcephally, and microphtalmia. The breakpoints are considered to be distal on both arms of chromosome 6, in view of apparently normal transmission of HLA phenotypes.
D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007621:Karyotyping
Chromosome 6 en anneau: un tableau clinique peu spécifique.