Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.

Blennow, Elisabeth; Tillberg, Elsa

doi:10.1136/jmg.33.5.399

Cited by 26 publications

(33 citation statements)

References 24 publications

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“…For SRCs Blennow and Tillberg (1996) estimated the risk of an abnormal phenotype of about 60 %. Important factors, determining whether or not an SRC will give rise to a clinical phenotype, are the euchromatic material involved and the degree of mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

Tönnies

Hennies

Spohr³

et al. 2003

Cytogenet Genome Res

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We report on the conventional cytogenetic and fluorescence in situ hybridization (FISH) results obtained for a 3.5-year-old girl with developmental and language delay and a supernumerary ring chromosome mosaicism in 8% of T-lymphocytes analyzed. Using different conventional and molecular cytogenetic techniques as YAC hybridization and comparative genomic hybridization, we could show that the extra tricentric ring chromosome consists of three heterochromatic blocks with inserted euchromatic material. Additionally, chromosome microdissection followed by FISH analysis demonstrated that the small tricentric ring chromosome consisted of material from the pericentromeric region of chromosome 1q21. Thus, the patient has a mosaic of normal cells and cells with partial pentasomy of the pericentromeric region of chromosome 1. So far, 19 cases with single supernumerary marker chromosome 1 have been published, but no tricentric ring chromosome 1 is, to our knowledge, reviewed in the literature. In this study, we compare the clinical features of our patient with cytogenetically comparable cases described in the literature. We introduce a hypothesis for the formation of a tricentric ring chromosome: starting with a monocentric ring, sister chromatid exchange leading to the formation of a tetracentric ring, which underwent intrastrand recombination generating the tricentric ring.

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Section: Discussionmentioning

confidence: 99%

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

Tönnies

Hennies

Spohr³

et al. 2003

Cytogenet Genome Res

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“…The degree of mosaicism varied from 35 to 100 %. Regarding the size and the content of euchromatic material of the ring from proximal 10p and 10q, only two of the SMCs reviewed in the literature are cytogenetically comparable to our case (Blennow and Tillberg, 1996;Schlegel et al, 2002), with only the first of them being described clinically after birth showing a small ring-shaped SMC including the proximal short arm and centromeric sequences of chromosome 10 only (Blennow and Tillberg, 1996;Anderlid et al, 2001). Two of the other cases involve a marker chromosome consisting of the whole short arm of chromosome 10 (Snyder et al, 1984;Chen et al, 2001), while the case reported by Levy et al (2000), had a partial tetrasomy of more distal bands of 10p (10pter → p14F15) with neocentromere formation.…”

Section: Discussionmentioning

confidence: 85%

“…To the best of our knowledge, only five supernumerary marker chromosomes derived from chromosome 10 have been reported up today (Snyder et al, 1984;Blennow and Tillberg, 1996;Levy et al, 2000;Chen et al, 2001;Schlegel et al, 2002; see Table 1). The SMCs were de novo in all cases.…”

Section: Discussionmentioning

confidence: 99%

“…For small ring chromosomes the risk of an abnormal phenotype is about 60 % (Blennow and Tillberg, 1996). It is commonly accepted that the clinical phenotype of patients with SRCs is mainly determined by the euchromatic material involved in the derivative chromosome and the degree of mosaicism.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge only five SMCs containing euchromatic parts of chromosome 10 without any further cytogenetic aberrations have been described in the literature (Snyder et al, 1984;Blennow and Tillberg, 1996;Levy et al, 2000;Chen et al, 2001;Schlegel et al, 2002); only three of them (Blennow and Tillberg, 1996;Chen et al, 2001;Schlegel et al, 2002) were described as ring chromosomes. For none of these, 10q euchromatic material was described to be included in the marker.…”

confidence: 99%

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First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Trimborn

Grueters²,

Neitzel³

et al. 2004

Cytogenet Genome Res

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We report the identification and characterization of the first supernumerary ring chromosome 10 containing a considerable proportion of 10q euchromatin by microdissection and reverse painting in a female patient presenting with short stature. Fluorescence in situ hybridization studies showed that the marker chromosome originates from chromosome 10 and includes the euchromatic bands p11.2 and q11.2. The supernumerary marker chromosome 10 was found in 14% of the peripheral blood lymphocytes analyzed. This constitutional mosaic could be confirmed in oral mucosa cells as a second cell system (16%) by interphase FISH using an alphoid centromeric probe for chromosome 10. Parental karyotypes were normal, uniparental disomy for the normal chromosomes 10 could be excluded by microsatellite analysis. The karyotype of the patient detected in peripheral blood cells can be described as mos 47,XX,+mar.rev ish r(10)(p11.2q11.2)(wcp10+,cep10+)/46,XX.

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FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

1998

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Using fluorescence in situ hybridization (FISH), supernumerary marker chromosomes (SMC) from all the human autosomes except chromosome 5, have now been described, most being derived from the acrocentric autosomes. This review summarizes the results of 168 cases of autosomal SMC excluding those from chromosome 15 where FISH has been used to define the chromosomal origin of the SMC and from which phenotypic information is available. Although the number of reported cases from some of the chromosomal SMC groups remains small, the pooled data suggest that the risk of an abnormal phenotype associated with a randomly ascertained de novo SMC derived from the acrocentric autosomes (excluding 15s) is approximately 7% compared with approximately 28% for SMCs derived from the nonacrocentric autosomes.

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Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.

Cited by 26 publications

References 24 publications

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

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