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Ring chromosome

About: Ring chromosome is a research topic. Over the lifetime, 1546 publications have been published within this topic receiving 31061 citations. The topic is also known as: supernumerary circular chromosome.


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Journal ArticleDOI
TL;DR: This study confirms the association between hypodiploidy, complex karyotype, abnormalities of chromosomes 5 and 7 and a poor prognosis.

16 citations

Journal ArticleDOI
TL;DR: To improve the phenotype‐genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome, a new approach is proposed that combines EMT and ‘cell reprograming’ to correct for ‘spatially masked’ deletions.
Abstract: Objective To improve the phenotype-genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome. Methods Echographic examination of fetus. R-banded chromosome and FISH analysis on cultured amniocytes. Microsatellite analysis to determine parental origin of the ring chromosome 15. Fetal autopsy. Results We report a new case of prenatal diagnosis of congenital diaphragmatic hernia and intrauterine growth retardation in a fetus with ring chromosome 15 involving 15q26.1-qter deletion. Conclusion This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1–q26.2. Copyright © 2007 John Wiley & Sons, Ltd.

16 citations

Journal ArticleDOI
TL;DR: A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13).
Abstract: A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, -13,+13qter leads to cen::13q13 leads to qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.

16 citations

Journal ArticleDOI
TL;DR: Analysis in three cases demonstrated the presence of the COL1A1 and PDGFB genes and the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the α‐chain of type 1 collagen to platelet‐derived growth factor β‐chain.
Abstract: Background: The most frequent molecular abnormality observed in dermatofibrosarcoma protuberans (DFSP) is the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the α-chain of type 1 collagen, COL1A1 from 17q22, to the platelet-derived growth factor β-chain, PDGFB gene from 22q13. Rare cases documenting variant ring or marker chromosomes involving regions other than 17q22 and 22q13 have been reported. Further analysis in three of these cases demonstrated the presence of the COL1A1 and PDGFB genes. Methods: We report a further case of DFSP with a rare variant ring chromosome. The tumor appeared to undergo accelerated growth during pregnancy, then metastasized following pregnancy. We describe the clinical, histological, immunohistochemical, and cytogenetic features. Results: The metastatic tumor showed a variant r(17;?) chromosome. A locus-specific probe was required to demonstrate presence of the PDGFB gene within the ring, indicating cryptic molecular rearrangement between chromosomes 17 and 22, and recombination with an unknown chromosome. Conclusions: Cryptic rearrangement of chromosomes 17 and 22 should be suspected in variant ring chromosomes and translocations. Pregnancy may contribute to accelerated growth of DFSP, and delay in surgical resection should be avoided.

16 citations

Journal ArticleDOI
TL;DR: The phenotypes of three fetuses with pure inv dup del 13q are compared to those previously reported for ring chromosome 13, pure 13q deletions and duplications, and for thumb, cerebral, and eye anomalies.
Abstract: Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. We report on additional three fetuses with pure inv dup del 13q: Patient 1 had macrosomia, enlarged kidneys, hypersegmented lungs, unilateral moderate ventriculomegaly, and a mild form of hand and feet preaxial polydactyly; Patient 2 had intrauterine growth retardation, widely spaced eyes, left microphthalmia, right anophthalmia, short nose, bilateral absent thumbs, cutaneous syndactyly of toes 4 and 5, bifid third metacarpal, a small left kidney, hyposegmented lungs, and partial agenesis of the corpus callosum; Patient 3 had widely spaced eyes, long and smooth philtrum, low-set ears, median notch in the upper alveolar ridge, bifid tongue, cutaneous syndactyly of toes 2 and 3, enlarged kidneys and pancreas, arhinencephaly, and partial agenesis of the corpus callosum. We compared the phenotypes of these patients to those previously reported for ring chromosome 13, pure 13q deletions and duplications. We narrowed some critical regions previously reported for lung, kidney and fetal growth, and for thumb, cerebral, and eye anomalies.

16 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202310
202221
202123
202019
201919
201836