Supernumerary small ring chromosome

S. Kaffe, H. J. Kim, L. Y.F. Hsu, C. B. Brill, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


A supernumerary small ring chromosome was found in 30% of cultured peripheral leukocytes and 50% of skin fibroblasts in a 6-yr-old boy withmild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.

Original languageEnglish
Pages (from-to)447-451
Number of pages5
JournalUnknown Journal
Issue number6
StatePublished - 1977


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