dup(10q) lacking α-satellite DNA in bone marrow cells of a patient with acute myeloid leukemia

Abeliovich, Dvorah; Yehuda, Orly; Ben-Neriah, Susana; Kapelushnik, Yosef; Ben‐Yehuda, Dina

doi:10.1016/0165-4608(95)00300-2

Cited by 27 publications

(18 citation statements)

References 14 publications

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“…One case involving 17q24 in association with 11q23 as a sole abnormality was described in the literature in a case of AML M1. 72 The translocation involving 17q25, t(11;17)(q23;q25), as a sole chromosomal abnormality or as part of a simple karyotype has been previously reported in two cases of ALL, 73,74 two cases of AML M1, 75,76 four cases of AML M2, 4,77-79 three cases of AML M4, 24,80,81 one case of AML M5b, 82 two cases of RAEB 83,84 and one case of chronic myelomonocytic leukemia (CMML). 85 A complex karyotype was found with a variant translocation t(3;17;11)(p23;q25;q13q23), in a case of MDS.…”

Section: A Overall Cases In 'Other' Groupmentioning

confidence: 98%

Ten novel 11q23 chromosomal partner sites

Cuneo²,

et al. 1998

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The MLL gene located at 11q23 has been described as a 'promiscuous' gene due its involvement with a large number of genetic partners. The EU Concerted Action Workshop on 11q23 provided 550 cases for study of which 82 showed abnormalities which did not involve the established translocations or deletion of 11q23. In these 'other' cases, which included inversions and duplications, 11q23 was found to be involved with 25 chromosome partners of which 10 had not been previously reported. These were 1q31, 4p11, 6q13, 8q21, 10q22, 10q25, 11q11, 11q21, 13q34 and 18q23. This study demonstrated the value of the Workshop, in confirming the diversity of chromosomal partner sites involved with 11q23 and in the identification of new partners.

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Section: A Overall Cases In 'Other' Groupmentioning

confidence: 98%

Ten novel 11q23 chromosomal partner sites

Cuneo²,

et al. 1998

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“…cytogenetic studies of patients with a wide variability of observed phenotypes, neocentromeres have been documented in several cases of human cancer and suspected to play a role in tumorigenesis [Abeliovich et al, 1996;Italiano et al, 2009]. The re-positioning of centromeres within a karyotype in the absence of chromosome breakage is, however, also involved in species evolution [Stanyon et al, 2008;Brown and O'Neill, 2010].…”

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confidence: 99%

Centromere Conversion and Retention in Somatic Cell Hybrids

Brown

Carone²,

Flynn³

et al. 2011

Cytogenet Genome Res

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The generation of somatic cell hybridization-derived cell lines between highly divergent species affords the opportunity to examine the concept of ‘genome dominance’ in the context of genetic and epigenetic changes. While whole-scale genome dominance has been well documented in natural hybrids among closely related species, an examination of centromere position and sequence retention in 2 marsupial-eutherian hybrids has revealed a mechanism for ‘centromere dominance’ as a driving force in the generation of stable somatic cell hybrids following an initial period of genomic instability. While one somatic cell hybrid cell line appeared to retain marsupial centromere sequences which remained competent to recruit the centromere-specific histone variant CENP-A in a Chinese hamster background, fusion events between marsupial and mouse-derived chromosomes in another hybrid line led to a centromere sequence conversion from one species to the other. We postulate that the necessity to maintain an epigenetically defined centromere following genome hybridization may be responsible for retention of specific chromosomes and may result in rapid sequence turnover to facilitate the recruitment of CENP-A containing histones.

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“…The first neocentromere described in humans was located at 10q25.2 on a chromosome formed from p and q fusion in association with an excised centric ring (Voullaire et al, 1993;du Sart et al, 1997). The other two reports include a mitotically stable ring chromosome 10(q11 → q23) which resulted from an excision within a single arm (Depinet et al, 1997) and a large inversion duplication 10(q11.2 → qter), which remains the only case of a somatically derived neocentromere, found in leukemic bone marrow (Abelovich et al, 1996). These cases formally demonstrate at least three distinct neocentromere locations within chromosome 10.…”

Section: Discussionmentioning

confidence: 99%

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome

Levy

Papenhausen

Tepperberg

et al. 2000

Cytogenet Genome Res

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Neocentromeres are fully functional centromeres found on rearranged or marker chromosomes that have separated from endogenous centromeres. Neocentromeres often result in partial tri- or tetrasomy because their formation confers mitotic stability to acentric chromosome fragments that would normally be lost. We describe the prenatal identification and characterization of a de novo supernumerary marker chromosome (SMC) containing a neocentromere in a 20-wk fetus by the combined use of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). GTG-banding of fetal metaphases revealed a 47,XY,+mar karyotype in 100% of cultured amniocytes; parental karyotypes were both normal. Although sequential tricolor FISH using chromosome-specific painting probes identified a chromosome 10 origin of the marker, a complete panel of chromosome-specific centromeric satellite DNA probes failed to hybridize to any portion of the marker. The presence of a neocentromere on the marker chromosome was confirmed by the absence of hybridization of an all-human-centromere alpha-satellite DNA probe, which hybridizes to all normal centromeres, and the presence of centromere protein (CENP)-C, which is associated specifically with active kinetochores. Based on CGH analysis and FISH with a chromosome 10p subtelomeric probe, the marker was found to be an inversion duplication of the distal portion of chromosome 10p. Thus, the proband’s karyotype was 47,XY,+inv dup(10)(pter→p14∼15::p14∼15→neo→pter), which is the first report of partial tetrasomy 10p resulting from an analphoid marker chromosome with a neocentromere. This study illustrates the use of several molecular strategies in distinguishing centric alphoid markers from neocentric analphoid markers.

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dup(10q) lacking α-satellite DNA in bone marrow cells of a patient with acute myeloid leukemia

Cited by 27 publications

References 14 publications

Ten novel 11q23 chromosomal partner sites

Ten novel 11q23 chromosomal partner sites

Centromere Conversion and Retention in Somatic Cell Hybrids

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome

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