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

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. Cell 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 for 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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jones IM,Palmer CG,Weaver DD,Hodes ME

subject

Has Abstract

pub_date

1981-03-01 00:00:00

pages

252-61

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

33

pub_type

杂志文章

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