Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

Vermeesch, Joris; Duhamel, Hein; Petit, P; Falzetti, D; Marynen, Peter

doi:10.1007/s004399900184

Cited by 8 publications

(7 citation statements)

References 24 publications

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“…We previously characterized five mitotically stable SACs carrying a functional centromere, as indicated by the presence of CENP-C proteins and without telomere sequences indicating that they were circular chromosomes (Vermeesch et al 1999). Permanent cell lines containing the SACs were obtained by fusing these fibroblasts to hamster CH cells.…”

Section: Isolation Modification and Characterization Of A Human Sacmentioning

confidence: 99%

“…Recently, we detected and characterized five mitotically stable small accessory chromosomes (SACs) in human fibroblasts derived from a patient (Vermeesch et al 1999). Here, we describe the isolation of one of these SACs in a hamster cell line, its modification by integration of a selectable marker gene, and a loxP sequence for site-specific insertion of foreign sequences using the Cre recombinase and its characterization as an HCV in cell lines and in mice.…”

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confidence: 99%

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Efficient Male and Female Germline Transmission of a Human Chromosomal Vector in Mice

Voet¹,

Vermeesch²,

Carens³

et al. 2001

Genome Res.

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A small accessory chromosome that was mitotically stable in human fibroblasts was transferred into the hprt − hamster cell line CH and developed as a human chromosomal vector (HCV) by the introduction of a selectable marker and the 3Ј end of an HPRT minigene preceded by a loxP sequence. This HCV is stably maintained in the hamster cell line. It consists mainly of alphoid sequences of human chromosome 20 and a fragment of human chromosome region 1p22, containing the tissue factor gene F3. The vector has an active centromere, and telomere sequences are lacking. By transfecting a plasmid containing the 5Ј end of HPRT and a Cre-encoding plasmid into the HCV + hamster cell line, the HPRT minigene was reconstituted by Cre-mediated recombination and expressed by the cells. The HCV was then transferred to male mouse R1-ES cells and it did segregate properly. Chimeras were generated containing the HCV as an independent chromosome in a proportion of the cells. Part of the male and female offspring of the chimeras did contain the HCV. The HCV + F1 animals harbored the extra chromosome in >80% of the cells. The HCV was present as an independent chromosome with an active centromere and the human F3 gene was expressed from the HCV in a human-tissue-specific manner. Both male and female F1 mice did transmit the HCV to F2 offspring as an independent chromosome with properties similar to the original vector. This modified small accessory chromosome, thus, shows the properties of a useful chromosomal vector: It segregates stably as an independent chromosome, sequences can be inserted in a controlled way and are expressed from the vector, and the HCV is transmitted through the male and female germline in mice.

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Section: Isolation Modification and Characterization Of A Human Sacmentioning

confidence: 99%

mentioning

confidence: 99%

Efficient Male and Female Germline Transmission of a Human Chromosomal Vector in Mice

Voet¹,

Vermeesch²,

Carens³

et al. 2001

Genome Res.

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“…The smallest group among the very heterogeneous group of 'cases with sSMC' comprises those with multiple sSMC derived from different chromosomes, they provide about 1.4% of sSMC cases [Liehr et al, 2004]. Within this group, there are presently 13 cases with 2, 3 with 4, and 1 each with 3, 5,6, and 7 sSMC per case (for details see Table I) [Callen et al, 1991;Plattner et al, 1993ab;Wiktor et al, 1993;Aalfs et al, 1996;Mackie-Ogilvie et al, 1997;Ulmer et al, 1997, Haddad et al, 1998Viersbach et al, 1998;Shanske et al, 1999;Vermeesch et al, 1999;Maurer et al, 2001;Nandi et al, 2001;Levy et al, 2002;Beverstock et al, 2003;Reddy et al, 2003;Starke et al, 2003]. All the patients had malformations and/or severe mental retardation.…”

Section: Introductionmentioning

confidence: 96%

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

Liehr¹,

Starke²,

Senger

et al. 2005

American J of Med Genetics Pt A

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Small supernumerary marker chromosomes (sSMC) in human are defined as additional centric derivatives smaller than chromosome 20. In the majority of the cases only one sSMC is present, leading to a more or less stable karyotype of 47,XX,+mar or 47,XY,+mar. In approximately 1.4% of sSMC cases two or up to seven markers of different chromosomal origin are reported. According to the literature a sSMC(6) was present in 33% of the patients with multiple sSMC while sSMC(6) are observed in <1% of cases with a single sSMC. Currently there is no explanation for this striking observation. Here we report on one more unique case with two sSMC, one derived from #5 and the other from #6. Using microdissection/reverse painting, subcentromere-specific multicolor FISH (subcenM-FISH) and multicolor banding (MCB), they could be described as min or r(6)(::p11.1 --> q11.1::) and r(5)(::p11.1 approximately 12 --> q10::q10 --> p11.1 approximately 12::), respectively. Reversed array CGH using the DNA of the microdissected sSMC as probe confirmed the FISH results and enabled the rapid mapping of the breakpoints.

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“…It is stated that SRC constitute about 10 % of SMC (Blennow et al, 1994). In addition, the following names can be found: accessory chromosome (= AC; Soudek and Sroka, 1977;or ACH;Soudek et al, 1973), small accessory chromosome (= SAC; Vermeesch et al, 1999), marker chromosome (Nielsen and Rasmussen, 1975), extra or additional marker chromosome (Buckton et al, 1985;, supernumerary or extra microchromosome (Howard-Peebles, 1979;Chudley et al, 1983), additional or metacentric chromosome fragment (Den Dulk et al, 1966), (centric) fragment (Hoehn et al, 1970), or small bisatellited additional chromosome (= SBAC; Mattei et al, 1984).…”

Section: Nomenclature and Definition Of Ssmcmentioning

confidence: 99%

Small supernumerary marker chromosomes (sSMC) in humans

Liehr¹,

Claussen²,

Starke³

2004

Cytogenet Genome Res

260

277

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Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(22)-, i(12p)- (Pallister Killian syndrome) and inv dup(22)- (cat-eye) syndromes. However, most of the remaining sSMC including minute-, ring-, inverted-duplication- as well as complex-rearranged chromosomes, have not yet been correlated with clinical syndromes, mostly due to problems in their comprehensive characterization. Here we present an overview of sSMC, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence. The review also discusses the frequency of sSMC in prenatal, postnatal, and clinical cases, their chromosomal origin and their association with uniparental disomy. A short review of the up-to-date approaches available for sSMC characterization is included. Clinically relevant correlations concerning the presence of a specific sSMC and its phenotypic consequences should become available soon.

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Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

Cited by 8 publications

References 24 publications

Efficient Male and Female Germline Transmission of a Human Chromosomal Vector in Mice

Efficient Male and Female Germline Transmission of a Human Chromosomal Vector in Mice

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

Small supernumerary marker chromosomes (sSMC) in humans

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