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Case Reports
. 1977 Dec;14(6):447-51.
doi: 10.1136/jmg.14.6.447.

Supernumerary small ring chromosome

S Kaffe, H J Kim, L Y Hsu, C B Brill, K Hirschhorn
Case Reports

Supernumerary small ring chromosome

S Kaffe et al. J Med Genet. 1977 Dec.

Abstract

A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild 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.

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