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PubMed · 604496

Supernumerary small ring chromosome.

S Kaffe·H J Kim·L Y Hsu·C B Brill·K Hirschhorn
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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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ChildChild, PreschoolCleft PalateHumansInfantIntellectual DisabilityKaryotypingMaleMosaicismCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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S Kaffe, H J Kim, L Y Hsu, C B Brill, K Hirschhorn. 1977. Supernumerary small ring chromosome.. https://doi.org/10.1136/jmg.14.6.447

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