Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7

Winsor, Elizabeth J.T.; Palmer, Catherine G.; Ellis, Patricia; Hunter, J.L.P.; Ferguson‐Smith, M. A.

doi:10.1159/000130849

Cited by 82 publications

(49 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some chromosomal inversions can give rise to the birth of an abnormal child, resulting from duplications and deficiencies of a recombinant chromosome, whereas other inversions seem compatible with the transmission of only normal and genetically balanced offspring for generations. It has been shown that, in order for an individual heterozygote for a pericentric inversion to produce a live-born child with a recombinant chromosome, the inverted segment must involve a minimum of 30% (Winsor et al 1978) or one-third (Trunca and Opitz 1977) of the chromosome length. Overall, the risk that a carrier of a pericentric inversion will produce a child with an unbalanced karyotype is 1%-10% (Gardner and Sutherland 1996).…”

Section: Introductionmentioning

confidence: 99%

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

et al. 2001

View full text Add to dashboard Cite

We describe a man with pericentric inversion 9 and constitutive heterochromatin, and a high disomy rate in his sperm cells (with all probes analyzed). The disomy rate was estimated with the following probes: 8, 9, 18, X, and Y, and was significantly higher than that in control sperm cells, while chromosome 9 showed the highest disomy frequency. The probes of X and Y together showed the same disomy frequency as X and Y alone, which indicates the same nondisjunction rate in the first meiotic division. We suggest that the interchromosomal effect found in this man differed from other findings in sperm cells of men carrying an inversion in terms of the difference in the length of the heterochromatin between the two chromosomes 9. Also, it is well known that the effect of inversion 9 with increased heterochromatin is highly variable and may even vary in members of the same family.

show abstract

Section: Introductionmentioning

confidence: 99%

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

et al. 2001

View full text Add to dashboard Cite

show abstract

“…Recently, some recombinant chromosomes have been reported to be induced even by small inversions (Phelan et al, 1993;Ayukawa el al., 1994). However, the possibility of the occurrence of an offspring having a recombinant chromosome is higher in the carrier in which the inversion segment involves a minimum of 30~ or one-third of the chromosome length than in the carrier in which the inversion segment involves less than 30~ or one-third of the chromosome length (Winsor et al, 1978;Trunca and Opitz, 1977). Although there has been no previous report directly describing a recombinant chromosome (chromosome imbalance) induced by pericentric inversion of chromosome 1, recurrent abortions complained of in two previously reported cases might have been caused by chromosome imbalance.…”

Section: Discussionmentioning

confidence: 97%

Familial pericentric inversion incidentally detected at prenatal diagnosis

et al. 1995

View full text Add to dashboard Cite

SummaryA case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion. Key Wordspericentric inversion, chromosome 1, prenatal diagnosis, semen analysis Pericentric inversion of chromosome 1 is an extremely rare chromosomal rearrangement of which only 16 cases have been reported. Herein, we report a new case of a Japanese family having heterozygous pericentric inversion of chromosome 1, the breakpoints of which were p13 and q23. This is the first case in which pericentric inversion of chromosome 1 was prenatally diagnosed. Case ReportA woman visited our clinic at Tohoku University Hospital for prenatal chromosomal diagnosis of her fetus because of her advanced age (40 years old). It was her first pregnancy. Phenotypes of her and her husband were normal.Amniocentesis was performed at the 16th gestational week and the amniocytes were cultured in Chang's media under 5 % CO 2 in air. The karyotype revealed the fetus to be a heterozygote with an pericentric inversion of chromosome I [46, XY,inv(1)(p13q23)] (Fig. 1). Based on the result, chromosomal examinations of the parents were consequently performed. Fetal blood cell karyotyping was carried out to deny any artifacts. Leukocytes of those samples were cultured in RPMI

show abstract

“…duplicated/ deleted for either one or the other regions outside the inversion. Empirical reports have demonstrated that a minimum of 30% of the total length of the chromosome must be involved in the inversion to produce recombinant chromosome (Winsor et al, 1978). Furthermore, the location of the breakpoint in the rearrangement seems to affect the likelihood of forming an inversion loop.…”

Section: Discussionmentioning

confidence: 99%

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

Chantot‐Bastaraud¹,

Ravel²,

Berthaut³

et al. 2006

MHR: Basic Science of Reproductive Medicine

View full text Add to dashboard Cite

No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the inverted segment results in gametes bearing recombinant chromosomes with a duplication of the region outside of the inversion segment of one arm and a deletion of the terminal segment of the other arm [dup(p)/del(q) and del(p)/dup(q)]. Using fluorescence in-situ hybridization (FISH), the chromosome segregation of a pericentric inversion of chromosome 1 was studied in spermatozoa of a inv(1)(p22q42) heterozygous carrier. Three-colour FISH was performed on sperm samples using a probe mixture consisting of chromosome 1p telomere-specific probe, chromosome 1q telomere-specific probe and chromosome 18 centromere-specific alpha satellite DNA probe. The frequency of the non-recombinant product was 80.1%. The frequencies of the two types of recombinants carrying a duplication of the short arm and a deletion of the long arm, and vice versa, were respectively 7.6 and 7.2%, and these frequencies were not statistically significant from the expected ratio of 1:1. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.

show abstract

Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7

Cited by 82 publications

References 3 publications

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

Familial pericentric inversion incidentally detected at prenatal diagnosis

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

Contact Info

Product

Resources

About