A De Novo Centric Fission of Chromosome 11 in a Patient with Recurrent Miscarriages

Abstract

We report on a de novo centric fission of chromosome 11 in a healthy female referred for chromosome analysis due to recurrent miscarriages. Both fission products were mitotically stable. This centric fission of chromosome 11 appears to have no clinical significance for this patient other than recurrent miscarriages.

A Rare Case of Centric Fission and Fusion in a River Buffalo (Bubalus bubalis, 2n = 50) Cow with Reduced Fertility

“…It has been rarely reported in humans [Sinha et al, 1972;Bogart et al, 1995;Bakshi et al, 2003;Perry et al, 2004;Shim et al, 2007]. In domestic animals centric fissions have been found only in donkey [TrommershausenBowling and Millon, 1988;Houck et al, 1998;Myka et al, 2003;Alaoui et al, 2004].…”

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

“…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].…”

“…Its frequency may be underestimated because the carriers usually have a normal phenotype. However, they have an increased risk for infertility, spontaneous abortion, stillbirths, and liveborns with congenital malformations [Pauer et al, 1997;Shim et al, 2007]. After the centric fission event, different types of fission products might be observed including telocentric chromosomes, isochromosomes, ring chromosomes, and whole arm translocations for one arm along with an isochromosome for the other [Perry et al, 2004].…”

“…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.…”

Complete trisomy 10p resulting from an extra stable telocentric chromosome

“…Centric fission of a chromosome occurs after a break in the centromeric region resulting in the separation of the centromere into two portions, and consequently the formation of two stable telocentric chromosomes [Perry et al, 2004]. Only a few individuals with stable centric fission originating from different chromosomes have been documented so far [Janke, 1982; Del Porto et al, 1984; Shim et al, 2007; Cetin et al, 2011]. There is one report of a centric fission of chromosome 10 in a healthy woman who had two pregnancies with trisomy 10p, but there was no evidence of any clinical presentation or a record of the outcome of these pregnancies [Perry et al, 2005].…”