Study of two cases of ring 13 chromosome using high-resolution banding

I. M. Jones, C. G. Palmer, David Weaver, M. E. Hodes

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cells with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied states of condensation were seen, as were cells monosomic for chromosome 13. The evolution of these cell lines as a result of sister chromatid exchange, nondisjunction, ring breakage, and premature chromosome condensation is discussed. Clinical features of these patients reflect the heterogeneity of phenotype of r13 patients. Each case includes a feature of trisomy 13. The significance of mosaicism of cell lines in patients bearing ring chromosomes is considered with respect to variation in clinical findings.

Original languageEnglish (US)
Pages (from-to)252-261
Number of pages10
JournalAmerican Journal of Human Genetics
Volume33
Issue number2
StatePublished - 1981
Externally publishedYes

Fingerprint

Prometaphase
Ring Chromosomes
Chromosome Breakage
Cell Line
Chromosomes, Human, Pair 13
Sister Chromatid Exchange
Mosaicism
Chromosomes
Chromosome 13 ring
Phenotype
Trisomy 13 syndrome

ASJC Scopus subject areas

  • Genetics

Cite this

Study of two cases of ring 13 chromosome using high-resolution banding. / Jones, I. M.; Palmer, C. G.; Weaver, David; Hodes, M. E.

In: American Journal of Human Genetics, Vol. 33, No. 2, 1981, p. 252-261.

Research output: Contribution to journalArticle

Jones, I. M. ; Palmer, C. G. ; Weaver, David ; Hodes, M. E. / Study of two cases of ring 13 chromosome using high-resolution banding. In: American Journal of Human Genetics. 1981 ; Vol. 33, No. 2. pp. 252-261.
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