Association of Pericentric Inversion of Chromosome 9 and Reproductive Failure in Ten Unrelated Families

Boué, J; Taillemite, Jean‐Louis; Hazael-Massieux, P.; Leonard, Christopher J.; Boué, A

doi:10.1097/00006254-197611000-00017

Cited by 11 publications

(20 citation statements)

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“…So far we have not seen any report of unbalanced offspring from carriers of inv(9)(qh). It is speculated that recombination does not occur because Of the short distance between the two breakpoints, and because of the centromere and heterochromatic block (Bou6 et al, 1975;Martin and Abrisqueta, 1983). In the father of our proband, the breakpoint is located at a distal portion far from the heterochromatic region, so there is ample possibility of the occurrence of crossing-over.…”

Section: Discussionmentioning

confidence: 87%

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

et al. 1991

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Section: Discussionmentioning

confidence: 87%

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

et al. 1991

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“…The result showed that the carrier incidence of the HA group was 3.5 times higher in husbands and 1.3 times higher in wives than the incidence in the normal control group, when taking into consideration of the sex difference (Table 3). In wives of male inv(9) carriers, the poor reproductive outcome due to long-standing interfility and early abortions (Boue et al, 1975;Tho et al, 1982) and reduced numbers of offspring (de la Chapelle et al, 1974) have been reported. Therefore, it seems likely that males, rather than females, are slightly more susceptible to genetic impairment related to the inv(9) in terms of reproduction failure.…”

Section: Discussionmentioning

confidence: 99%

“…Drawing our interest was the point that some investigators have suggested an association of inv(9) and reproductive failure (de la Chapelle et al, 1974;Boue et al, 1975;Tho et al, 1982). However, other investigators did not find an excess of inv(9) carriers and have argued that inv(9) variants do not play an important role in etiology of recurrent fetal loss (Ward et al, 1980;Fryns et al, 1984).…”

Section: Introductionmentioning

confidence: 99%

Population studies of inv(9) chromosomes in 4,300 japanese: Incidence, sex difference and clinical significance

Yamada

1992

Jap J Human Genet

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SummaryPopulation incidence of a chromosome 9 with an inversion of qh, inv(9), was surveyed using C-banding in a total of 4,367 Japanese which consisted of five patient groups and a normal control group. The inv(9) incidence was 1.65~ in the normal control group (n=1,513) and 1.52~ in the Down syndrome patient group (n----1,246). The incidence of female carriers was 1.7 times higher than that of male carriers in the above two groups. The sex difference was significant (p<0.05). Moreover, the incidence in the 47,XXY male group (n~277) was slightly higher than female carrier incidences. The excess of carriers about 2 times was observed in the habitual abortion couple group (n~--694) and the spontaneous abortus group (n=181), both having normal karyotypes. The present data probably indicate the existence of a genetic effect of inv(9) on human reproductive performance, while they could not explain the sex difference found in inv(9) carriers. Our speculation for the sex difference has been presented.

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“…Boue and Gallano (1984) described that couples with a pericentric inversion ascertained through an infant with unbalanced rearrangement can be considered to be a high risk group for unbalanced offspring. Although pericentric inv(9) is known to be a normal chromosomal variant which does not affect phenotype, this rearrangement has been reported to be related to infertility (Boue et al, 1975;Uehara et al, 1992) and a Vol. 39, No.…”

Section: Discussionmentioning

confidence: 99%

A family with pericentric inversion of chromosome 12

et al. 1994

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SummaryA heterozygous pericentric inversion of chromosome 12 (inv(12)) was prenatally diagnosed. The breakpoints were localized to p12.3 and q14, resulting in more than one-third of the total length of the chromosome being inverted. The inversion was transmitted from the father whose phenotype was completely normal. The newborn also showed normal phenotype and grew without any clinical problems. The parents had no history of infertility. Based on these facts, it is indicated that pericentric inv(12) (p12.3q14) does not affect phenotype.

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Association of Pericentric Inversion of Chromosome 9 and Reproductive Failure in Ten Unrelated Families

Cited by 11 publications

References 0 publications

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

Population studies of inv(9) chromosomes in 4,300 japanese: Incidence, sex difference and clinical significance

A family with pericentric inversion of chromosome 12

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