Familial centric fission of chromosome 4.

Porto, G. Del; Fusco, C. Di; Baldi, Marina; Grammatico, Paola; D'Alessandro, E.

doi:10.1136/jmg.21.5.388

Cited by 12 publications

(15 citation statements)

References 6 publications

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“…To date, a few simple centric fissions leading to two mitotically stable telocentrics have been described [Hansen, 1975;Dallapiccola et al, 1976;Surana et al, 1976;Fryns et al, 1980;Therman et al, 1981;Janke, 1982;Del et al, 1984;Nucaro et al, 1988;Prabhakar et al, 1994;Bogart et al, 1995;Pauer et al, 1997;Bakshi et al, 2003;Shim et al, 2007]. De novo simple centric fission of chromosomes 4, 18, and 21 was observed in amniotic fluid samples during prenatal diagnosis in three cases [Nucaro et al, 1988;Prabhakar et al, 1994;Bogart et al, 1995].…”

Section: Discussionmentioning

confidence: 97%

“…Indications for chromosome analysis in postnatal cases were offspring with congenital malformations in four cases and recurrent miscarriages, infertility and psychiatric disorder in one case each. Although centric fission arose de novo in most cases, transmission of centric fission products in two or more generations was observed in four pedigrees [Dallapiccola et al, 1976;Fryns et al, 1980;Janke, 1982;Del et al, 1984]. In addition, simple centric fission of chromosome 1 in bone marrow cells was reported in a patient with acute myelocytic leukemia [Bakshi et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

“…With the exception of chromosomes 1 [Bakshi et al, 2003], 4 [Dallapiccola et al, 1976;Del et al, 1984;Nucaro et al, 1988], 7 [Hansen, 1975;Janke, 1982;Pauer et al, 1997], 9 [Surana et al, 1976], 10 [Fryns et al, 1980], 11 [Shim et al, 2007], 18 [Prabhakar et al, 1994], 21 [Bogart et al, 1995], and X [Therman et al, 1981] there is still very limited information on the mechanism of centric fission in humans. For chromosome 12, there is no report of simple centric fission leading to pure and complete trisomy 12p syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12

Çetin

Mıhçı

Yakut

et al. 2011

American J of Med Genetics Pt A

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Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report on centric fission of chromosome 12 leading to stable telocentrics, each with a fully functional centromere. Our observation shows that the centric fission of chromosome 12 can be a new mechanism for generation of a partial centromere and trisomy 12p syndrome.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12

Çetin

Mıhçı

Yakut

et al. 2011

American J of Med Genetics Pt A

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“…To date, more than 50 human cases of centric fission have been described in humans (Perry et al 2004;Rivera and Cantu 1986). Although centric fission is usually associated with marked phenotypic abnormality (perhaps partly attributable to ascertainment bias), familial centric fissions involving chromosomes 4 and 7 in healthy individuals have been described (Del Porto et al 1984;Janke 1982).…”

Section: Requirement Of An Improved Definition Of Mechanism Of Centrimentioning

confidence: 98%

Molecular distinction between true centric fission and pericentric duplication-fission

Perry

Nouri

et al. 2005

Hum Genet

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Centromere (centric) fission, also known as transverse or lateral centric misdivision, has been defined as the splitting of one functional centromere of a metacentric or submetacentric chromosome to produce two derivative centric chromosomes. It has been observed in a range of organisms and has been ascribed an important role in karyotype evolution; however, the underlying mechanisms remain unknown. We have investigated four cases of apparent centric fission in humans. Two cases show a missing chromosome 22 or 18 that is replaced by two centric ring products, a third case shows two chromosome-10-derived telocentric chromosomes, whereas a fourth case involves the formation of two chromosome-18-derived isochromosomes. In all four cases, results of gross cytogenetic and fluorescence in situ hybridisation analyses were consistent with a simple centric fission event. However, detailed molecular analyses provided evidence in support of centromere duplication as a predisposing mechanism for the observed chromosomal breakage in two of the cases. Results for the third case are consistent with direct centric fission not involving centromere pre-duplication as the likely mechanism. Insufficient material has precluded the further study of the fourth case. The data provide the first molecular evidence for centromere pre-duplication as a possible mechanism to explain the classically assumed simple "centric fission" events in clinical cytogenetics, karyotype evolution and speciation.

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“…Stable fission chromosomes in humans were first described by Sinha et al [ 19721 and have subsequently been observed in several generations [Janke, 1982, cen fiss 7;Del Port0 et al, 1984, cen fiss 41, in a few individuals [Hansen, 1975, cen fiss 7;Dellapiccola et al, 1976, cen fiss 4;Surana et al, 1976, cen fiss 9; Fryns et al, 1980, cen fiss 101, or as pseudomosaicism in an amniotic fluid culture [Nucaro et al, 1988, cen fiss 41. Families that carry fission chromosomes appear to be at increased risk for production of unbalanced gametes with consequently increased risks for spontaneous abortion, stillbirth and live born infants with unbalanced genotypes.…”

Section: Introductionmentioning

confidence: 98%