Centric Fission Of Chromosome Research Articles

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

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.

Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection.

Since the first reports of successful pregnancies after treatment with intracytoplasmic sperm injection (ICSI) in humans numerous attempts have been made to assess the genetic risks of this highly invasive technique. During the study period (February 1995-November 96), 142 couples were referred to our genetic counselling unit prior to ICSI. In three couples, genetic counselling revealed a high recurrence risk for a monogenic disease (myotonic dystrophy, hereditary ataxia and polycystic kidney disease). In nine out of 128 men (7%) an abnormal karyotype was identified, including three Robertsonian translocations, two reciprocal translocations, three sex chromosome aberrations and one case with centric fission of chromosome no. 7. A total of 14 men refused chromosomal analysis. Only one of the 122 women examined had an abnormal karyotype (47, XXX). Five out of six men with congenital bilateral absence of the vas deferens (CBAVD) had at least one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three had mutations in both CFTR alleles, including one case in which the second mutation was the 5T allele. One patient with CBAVD and a single Delta F508 CFTR mutation also had left renal agenesis. In conclusion, we strongly recommend that genetic counselling, chromosomal analysis and, in the case of CBAVD, screening for CFTR mutations should be offered to all couples with a diagnosis of male or idiopathic infertility.

Chiasma frequency effects of structural chromosome change

Three structural chromosome changes in the plant Hypochoeris radicata 2n = 8 have been tested for their effects on chiasma formation: (1) centric fission of chromosome 1, (2) a whole arm exchange between chromosomes 1 and 3, and (3) an interchange between the long arm of chromosome 1 and the short arm of 2 which gives an effectively three-armed pachytene multiple. Mean chiasma frequencies were compared between full-sibs in families segregating for the rearrangements. In each family the chiasma frequency was higher in heterozygotes than basic homozygotes. The size of the chiasma increase is dependant on the number of additional potentially-paired segments in the complement at pachytene. Fission heterozygotes and 1/2 interchange heterozygotes, with one extra pairing region, both form about 0.45 more chiasmata per PMC than full-sib basic homozygotes. The 1/3 exchange, with two additional pairing regions, increases chiasma frequency by twice this, about 0.85 per PMC. Individuals homozygous for the centric fission maintain the raised chiasma level. The chiasma increase appears limited to the chromosome(s) affected by structural change with no detectable interchromosomal effect.

TRISOMY 5p: A VARIABLE PHENOTYPE

The availability of differential staining techniques has led to the identification of many new chromosome abnormalities. We have recently evaluated three unrelated families in which five children have been handicapped to varying degrees as a result of a duplication of the short aim of chromosome 5. In each of two families, one parent had a balanced chromosome translocation which was the basis for the chromosome imbalance in four children. Another infant was the first affected family member. In Family G. there are two retarded females with no malformations and a partial Sp trisomy; i.e., 46, XX, der(8), t(5;8) (p13;p23) mat. In Family T. a brother and sister had multiple congenital anomalies. The karyotype in the girl showed 46, XX, der(9), t(5;9)(pl3;p24) pat. in Family E. a male infant with hypotonia and club feet had a chromosome complement of 47, XY, Sp-, +i(5p) e.g. centric fission of chromosome 5 with duplication of the short arm. These five children are all mentally retarded, but their associated physical findings vary from no abnormalities to multiple malformations. Possible explanations for this phenotypic discrepancy include varying degrees of duplication of chromosome 5 and the presence of an associated chromosome deletion in the unbalanced translocation. The child with the isochromosome 5p may be more indicative of the 5p trisomy syndrome.

A case of centric fission in man.

Centric fission of chromosome 7 was found in an otherwise normal karyotype resulting in two stable telocentrics with no tendency to fuse again.

Intraspecies autosomal polymorphism and chromosome replication in Akodon molinae (Rodentia-Cricetidae).

Cell spreads from bone marrow, spleen, testis and liver of four male and four female Akodon molinae (Rodentia:Cricetidae) were used for chromosome analysis and sex chromatin scoring. Chromosome replication at the beginning and end of the S period were analysed in bone marrow cells.In five animals (three males and two females) the diploid chromosome number was 42; the other three (1 male and 2 females) had a modal number of 43. In the former animals pairs 1,2,19,20 and the Y chromosome were easily identified morphologically. Chromosomes 1 were large and metacentric. In specimens with 43 chromosomes, pairs 2-20-XY were similar to those of animals with 42. Instead of having two number 1 homologues, these animals showed three unpaired chromosomes, one chromosome 1, one subterminal chromosome (1a) homologue of the long arm of the chromosome 1 and one submetacentric chromosome (1b) homologue of the short arm of the chromosome 1 Chromosomes 1a and 1b were considered to have arisen by a Robertsonian mechanism of centric fission of chromosome 1 plus a pericentric inversion.Studies of sex chromosome replication showed that the Y chromosome was the last to start and to end DNA synthesis in male complements. In females one X chromosome was the last to start replication. No late replicating X chromosome at the end of the S period was found. Coincidently, no sex chromatin could be detected in females.Analysis of late replication patterns in chromosomes 1, 1a and 1b, indicates that pericentric inversions can shift the replicating moment of the chromosomal regions involved in the rearrangement.