Ring 11 chromosome (46,XX,r11(p15q25))

Valente, Mario; Müller, Herbert; Sparkes, Robert S.

doi:10.1007/bf00446287

Cited by 19 publications

(12 citation statements)

References 8 publications

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“…In 3 of them, the ring chromosome 11 was present as a mosaic, and Paris-Trousseau syndrome was associated with JBS in only 2 patients [Valente et al, 1977;Niikawa et al, 1981;Cousineau et al, 1983;Romain et al, 1983;Daniele et al, 1986;Palka et al, 1986;Fagan et al, 1988;Adewale et al, 1991;Park et al, 2007;Carella et al, 2010;Hansson et al, 2012;Iourov et al, 2012;Zhang et al, 2012;Lange et al, 2015;Peng et al, 2015]. The present study is the first analysis by array CGH of a mosaic ring chromosome 11 linked to JBS of a boy without evidence of neonatal thrombocytopenia.…”

Section: Discussionmentioning

confidence: 90%

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

et al. 2016

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Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8.6 Mb, leading to a copy number loss of 52 genes. The patient had a hemizygous deletion in the FLI1 gene region without apparent thrombocytopenia, and he developed diabetes mellitus type I, which has not previously been described in the spectrum of disorders associated with JBS. The relationship of some of the genes within the context of the phenotype caused by a partial deletion of 11q has provided insights concerning the developmental anomalies presented in this patient with atypical features of JBS.

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Section: Discussionmentioning

confidence: 90%

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

et al. 2016

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“…Some researchers found higher frequencies of monosomic cells without the ring chromosomes in fibroblast compared to lymphocyte cultures (Sparkes et al, 1967;Moore et al, 1973;Palmer et al, 1977;Peeden et al, 1983), while others found no significant differences between the two tissues (Valente et al, 1977;Ledbetter et al, 1980;Manouvrier-Hanu et al, 1988). Ledbetter et al (1980), however, found ring chromosomes 15 with an abnormal morphology in 9% of metaphase cells from lymphocyte cultures and in 20 and 24% of cells from fibroblast cultures in the third and tenth subculture, respectively, although it was not possible to know if these cells were formed de novo or were perpetuated in a clonal manner.…”

Section: Discussionmentioning

confidence: 99%

Ring chromosome instability evaluation in six patients with autosomal rings

Sodré¹,

Guilherme²,

Meloni³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48-and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in 135©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 9 (1): 134-143 (2010) Ring chromosome instability metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.

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“…Only one patient is known with this rearrangement of chromosome 11 (Valente et al 1977). Microcephaly, hyperactive deep tendon reflexes throughout with bilateral ankle clonus and bilateral Babinski signs with symptoms for spasticity, mild clumsiness of general gross and fine motor coordination are the neurologieal signs.…”

Section: Ring-ll Chromosomementioning

confidence: 96%

Neurological Disorders in Patients With Chromosomal Anomalies

Kunze¹

1980

Neuropediatrics

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Ring 11 chromosome (46,XX,r11(p15q25))

Cited by 19 publications

References 8 publications

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

Ring chromosome instability evaluation in six patients with autosomal rings

Neurological Disorders in Patients With Chromosomal Anomalies

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