Ring chromosome 18 in a mother and son.
Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.
Donlan
M A
MA
Dolan
C R
CR
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes