Familial paracentric inversion of chromosome 15 (q15q24).

Porto, G. Del; D'Alessandro, E.; Matteis, C. De; R, D'Innocenzo; Baldi, Marina; Pachı́, A.; Cappa, F

doi:10.1136/jmg.21.6.451

Cited by 7 publications

(1 citation statement)

References 4 publications

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“…Nevertheless, family 1 can be considered a p a t t e r n for r e p r oductive risk with respect to inversions. I n d e e d , this case, which was previously described because of the n e o n a t a l death of two children with similar multiple abnormalities, and which has now b e e n brought up to date because of the occurrence of r e p e a t e d abortions, confirms our opinion ( D e l Porto et al 1984) that reproductive risks are related to familial specific gene sequences a n d / o r to hot spots involved in inverted segments.…”

Section: Family Isupporting

confidence: 90%

Paracentric inversion of chromosome 15(q15q24): description of three families

D'Alessandro

Matteis

et al. 1991

Hum Genet

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Section: Family Isupporting

confidence: 90%

Paracentric inversion of chromosome 15(q15q24): description of three families

D'Alessandro

Matteis

et al. 1991

Hum Genet

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Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases

et al. 1995

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We present a large review of 446 cases of paracentric inversions (PAI), including 120 new cases, to assess their incidence, distribution, inheritance, modes of ascertainment, interchromosomal effects, viable recombinant offspring, and clinical relevance. All 23 autosomes and sex chromosomes had inversions. However, none were identified in chromosome arms 18p, 19q, 20q, and Yp. PAI were most commonly reported in chromosomes 1, 3, 5, 6, 7, 11, and 14 and less frequently in chromosomes 4, 16, 17, 18, 19, 20, 21, 22, and Y. Inversions were most common in chromosome arms 6p, 7q, 11q, and 14q and observed least in chromosome arms 2p, 2q, 3q, 4q, and 6q. Frequently encountered breakpoints included 3(p13p25), 6(p12p23), 6(p12p25), 7(q11q22), and 11(q21q23). Ascertainment was primarily incidental (54.5%), mental retardation and/or congenital anomalies (22.2%), spontaneous abortions (11.4%), associations with syndromes (3.0%), and infertility (2.0%) accounted for the remainder. Ascertainment was neither related to the length of the inverted segment nor to specific inversions except for PAI of Xq which often presented with manifestations of Ullrich-Turner syndrome. Sixty-six percent of PAI were inherited while 8.5% were de novo. Recombination was observed in 17 cases, 15 of which resulted in a monocentric chromosomal deletion or duplication. No common factors were identified that suggested a tendency towards recombination. The incidence of viable recombinants was estimated to be 3.8%. This review documents that PAI are perhaps more commonly identified than suggested in previous reviews. Despite the possible bias of ascertainment in some cases, there may be associated risks with PAI that require further examination. Our data suggest that PAI carriers do not appear to be free of risks of abnormalities or abnormal progeny and caution is recommended when counseling.

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Paracentric inversions: a review

Madan

1995

Hum Genet

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This review of paracentric inversions in man includes what we know of the behaviour and reproductive consequences of paracentric inversions from other species. Observations of naturally occurring inversions in several species of plants and animals and results of experiments with mutagenically induced inversions in the mouse are discussed. From a review of 184 cases, it is concluded that most of the paracentric inversions in man are harmless and that the risk of heterozygotes having a child with an unbalanced karyotype is low. However, in some cases, it is difficult, if not impossible, to distinguish between a paracentric inversion and a paracentric insertion, the risk in the latter case being about 15%. Caution is also necessary in interpreting the results of prenatal diagnosis for heterozygotes of paracentric inversions, because of the possibility of a variety of unpredictable unbalanced chromosome products.

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Familial paracentric inversion of chromosome 15 (q15q24).

Cited by 7 publications

References 4 publications

Paracentric inversion of chromosome 15(q15q24): description of three families

Paracentric inversion of chromosome 15(q15q24): description of three families

Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases

Paracentric inversions: a review

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