A homozygote for pericentric inversion of chromosome 4.

Carpenter, Nancy J.; B, Say; Barber, Nancy

doi:10.1136/jmg.19.6.469

Cited by 26 publications

(18 citation statements)

References 11 publications

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“…There are few reports in which an association between infertility and inversion was found (Jacobs et al, 1975;Moorhead, 1976;Carpenter et al, 1982). Relatively normal reproductive capacity of the carriers of inversions (9)(pllql3)[inv-(9)(qh)] has been found (De la Chapella et al, 1974).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1991

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Section: Discussionmentioning

confidence: 99%

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

et al. 1991

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“…As might be expected, the majority were of homozygosity for pericentric inv (9). 21,23,[35][36][37][38][39][40][41][42][43] However, reports of homozygosity for pericentric inv(2), 44 inv(4), 45 inv(3) 46 and also for a paracentric inv(12) 47 also exist. Analysis of mode of inheritance showed various patterns of origin and ascertainment.…”

Section: Robertsonian Translocationsmentioning

confidence: 85%

“…44 The individual cases of inv(4), inv(3) and paracentric inv(12) homozygosity were each ascertained following investigation of neurodevelopmental abnormalities in the proband. [45][46][47] In case 33, with inv(4) homozygosity, the parents were unrelated and only the mothers heterozygous state was confirmed. 45 In case 35, that of paracentric inv(12) homozygosity, the heterozygous parents were related.…”

Section: Robertsonian Translocationsmentioning

confidence: 99%

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Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype

O’Neill¹

2010

J Hum Genet

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Chromosomal translocations and inversions are present in B0.6-1% of individuals. Although the majority are inherited, and the familial transmission across generations is well reported, reports of homozygosity are relatively rare, with most data in the form of individual case reports. A systematic review of all published cases was performed with particular attention to origin, ascertainment and phenotype of the reported homozygosity. A total of 10 cases of Robertsonian translocation (RBT), 6 reciprocal translocation and 19 cases of inversion homozygosity were identified. In RBT homozygosity, the majority of individuals are phenotypically normal, arise from inbreeding within a family that carries a familial translocation, and are ascertained following identification of an existing familial rearrangement rather than any feature specific to the homozygosity. In addition, they are fertile and as expected, their offspring are heterozygous for the translocation. For reciprocal translocations, homozygosity arises in individuals born to related parents from a family who harbor a unique familial translocation. Ascertainment is following investigation of phenotypic abnormalities resulting from consanguinity per se and/or the unmasking of a specific gene mutation. For chromosomal inversions, homozygosity may originate from either related or non-consanguinous parentage. Although many cases are ascertained because of an associated phenotypic abnormality, a high proportion of cases are of normal phenotype and a direct causal relationship is uncertain. There are fewer reports of both Robertsonian and inversion homozygosity than may be expected from the relative frequencies of each class within the population. Keywords: consanguinity; homozygosity; pericentric inversion; reciprocal translocation; Robertsonian translocation INTRODUCTION Structural chromosomal rearrangements detected under light microscopy fall under three broad categories: Robertsonian translocations (RBTs), reciprocal translocations and chromosomal inversions. 1 Data suggest that such rearrangements are present in B0.6-1% of individuals, with reported differences dependant on the population studied (for example unselected newborns or selected prenatal or population studies) and the level of banding techniques used. [2][3][4][5][6] Additional considerations include the proportion of balanced versus unbalanced abnormalities and origin of the rearrangement; that is whether inherited or de novo. The relative prevalence and the underlying mutations rate vary for each category of rearrangement and for specific types within each category.RBTs include non-homologous translocations and homologous forms, with non-homologous RBTs being far more common. 1 Nonhomologous RBTs are the most common recurrent whole-scale structural chromosomal rearrangement in humans being found in approximately 1 in 1000 live births. 2,5 These arise from whole arm exchanges between the short arms of the acrocentric chromosomes (13-15, 21 and 22) to form a single-metacentric chromosome.

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“…First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one homologue in a parent and on both in one offspring [2] and where there was transmission of an interhomologous Robertsonian translocation (of chromosome 22) from a healthy mother to healthy offspring [3][4], In mice, UPD was experimentally produced by crossing two mice lines with different Robertsonian translocations both involv1. Translocations between homologous chromosomes.…”

Section: Introductionmentioning

confidence: 99%

Uniparental Disomy and Genomic Imprinting in Humans

Schinzel

1996

Acta genet. med. gemellol.: twin res.

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Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans. First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one homologue in a parent and on both in one offspring [2] and where there was transmission of an interhomologous Robertsonian translocation (of chromosome 22) from a healthy mother to healthy offspring [3-4]. In mice, UPD was experimentally produced by crossing two mice lines with different Robertsonian translocations both involving the same chromosome [for 2 review see ref. 5].Through this approach, it was possible to define imprinted regions, chromosomes and chromosomal segments for which either maternal or paternal or both types of uniparental disomy led to phenotypic abnormalities. The latter are explained by genomic imprinting, the differential silencing of a gene or genes from one of the parents (the mother or the father) during any stage of embryogenesis or later in life. If, for example, the maternal homologue of a given gene is imprinted (and hence only the paternal allele is active), maternal UPD would lead to loss of the active allele and thus might cause consequences due to loss of function.

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A homozygote for pericentric inversion of chromosome 4.

Cited by 26 publications

References 11 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)

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype

Uniparental Disomy and Genomic Imprinting in Humans

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