Complex karyotypic mosaicism as a result of non‐disjunction and subsequent centromere fission

Prabhakar, Gayathri; Schwartz, Stuart; Waters, E.; Punzalan, Cecile; Cohen, Maimon M.

doi:10.1002/pd.1970140714

Cited by 3 publications

(5 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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]. Ten cases were postnatally detected.…”

Section: Discussionmentioning

confidence: 91%

“…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%

“…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%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 97%

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

View full text Add to dashboard Cite

show abstract

“…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]. Ten cases were postnatally detected.…”

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%

Viscoelastic behavior of hydroxyl terminated polybutadiene containing glycerin

Kohga

2011

J of Applied Polymer Sci

View full text Add to dashboard Cite

Hydroxyl terminated polybutadiene (HTPB) is widely used as a propellant binder. A plasticizer is usually added to improve the processing properties, the mechanical properties, and the burning characteristics of the propellant. Glycerin was found to be an effective additive to improve these properties. The glycerin/HTPB blend was hard enough to act as a binder for the composite propellant when the glycerin/HTPB mole ratio was less than 10. Only a small quantity of glycerin was incorporated into the network structure of the cured HTPB. Most of the added glycerin physically entered the voids in the network of the cured HTPB. Addition of a small quantity of glycerin (mole ratio less than 0.1) significantly altered the network density and the viscoelastic properties of the blends. The properties were only slightly dependent on the amount of the added glycerin in the mole ratio range of 0.1-10. The dangling ends were formed in the HTPB network by the addition of glycerin and the network structure was loosened, thereby enhancing the mobility of the chain segment. The viscoelastic properties of the blends followed the time-temperature superposition principle, and the properties were estimated accurately by the Williams-Landel-Ferry approach. V C 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122: [706][707][708][709][710][711][712][713] 2011

show abstract

Centric fission – simple and complex mechanisms

2004

View full text Add to dashboard Cite

Centric fission describes a rather poorly molecularly defined process of the transverse division of a functional centromere to result in two new centric chromosomes. While centric fission occurs rarely in humans, this process has been attributed an important role in eukaryotic karyotype evolution. Recent studies have given insight into the complex molecular mechanisms that lead to apparent centric fission events, including evidence in support of a mechanism driven by centric preduplication. These studies suggest that the traditional definition of centric fission, based on gross cytogenetic and molecular cytogenetic observations, needs to be broadened. It is necessary to distinguish between simple centric fissions, that involve the direct transverse breakage of a functional centromere, and other more complex fission events at or around a centromere that may be preceded by chromosomal rearrangements.

show abstract

Complex karyotypic mosaicism as a result of non‐disjunction and subsequent centromere fission

Cited by 3 publications

References 19 publications

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

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

Viscoelastic behavior of hydroxyl terminated polybutadiene containing glycerin

Centric fission – simple and complex mechanisms

Contact Info

Product

Resources

About