Indications for chromosome analysis illustrated by a case of ring 22.
A child with multiple anomalies and a suggested diagnosis of Hurler's syndrome was studied. Routine chromosome analysis revealed a ring 22. This case illustrates the importance of chromosome analysis in the evaluation of individuals with developmental problems.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis; D013577:Syndrome