| Literature DB >> 604496 |
S Kaffe, H J Kim, L Y Hsu, C B Brill, K Hirschhorn.
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.Entities:
Mesh:
Year: 1977 PMID: 604496 PMCID: PMC1013643 DOI: 10.1136/jmg.14.6.447
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318