Ring chromosome 6: report of a patient and literature review.
A patient with ring chromosome 6 had most of the manifestations previously reported in this syndrome and also had albinoid fundi and unilateral aniridia, findings not previously described. In most peripheral leukocyte metaphases analyzed, one chromosome 6 was replaced by a monocentric ring chromosome with deletion of the 6p and 6q. Fifteen other patients with a ring chromosome 6 have been reported. The most frequent findings were mental retardation, prenatal and postnatal failure, epicanthal folds, flat nasal bridge, short neck, apparently low-set and/or malformed ears, microphthalmia, and micrognathia. Studies of coagulation Factors XII and XIII and of the P blood group for possible assignment on distal 6p and 6q did not provide evidence for localization of the genes for these factors on the pter----p24 part of chromosome 6.
D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D005174:Factor XII / Q000235:genetics; D005176:Factor XIII / Q000235:genetics; D005654:Fundus Oculi / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010127:P Blood-Group System / Q000235:genetics; D012303:Ring Chromosomes
D010127:P Blood-Group System; D005174:Factor XII; D005176:Factor XIII