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Literature DB >> 7211840

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

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

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.

Entities: Species

Mesh：

Year: 1981 PMID： 7211840 PMCID： PMC1684954

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

Authors: T C Hsu; S Pathak; T R Chen
Journal: Cytogenet Cell Genet Date: 1975

2. Ring chromosome 13 syndrome.

Authors: K Fried; M Rosenblatt; G Mundel; R Krikler
Journal: Clin Genet Date: 1975-03 Impact factor: 4.438

3. Cytological evidence for switches in polarity of chromosomal DNA.

Authors: S Wolff; D L Lindsley; W J Peacock
Journal: Proc Natl Acad Sci U S A Date: 1976-03 Impact factor: 11.205

4. The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.

Authors: B McClintock
Journal: Genetics Date: 1938-07 Impact factor: 4.562

5. D13 ring chromosome syndrome.

Authors: A Mccandless; S Walker
Journal: Arch Dis Child Date: 1976-06 Impact factor: 3.791

6. Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation.

Authors: R B Lowry; F J Dill
Journal: Birth Defects Orig Artic Ser Date: 1977

4. Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report.

Authors: Can Liao; Fang Fu; Liang Zhang
Journal: J Med Case Rep Date: 2011-03-11

4 in total

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

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

2. Ring chromosome 13 syndrome.

3. Cytological evidence for switches in polarity of chromosomal DNA.

4. The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.

5. D13 ring chromosome syndrome.

6. Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation.

7. Parental origin of a ring 13 chromosome in a female with multiple anomalies.

8. Comparative behavior of ring chromosomes.

9. The behavior of ring chromosome 13.

10. Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.

Review 1. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

Review 2. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Review 3. Distribution of break points in human structural rearrangements.

4. Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report.