Paracentric inversion of Xq and ovarian dysfunction

Dar, Hanna; Tal, Joseph; Bar-El, Hanna; Halpern, Isachar; Шарф, М; Optiz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320290122

Cited by 5 publications

(2 citation statements)

References 7 publications

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“…Nemeth et alreported an infertile man with a Klinefelter like phenotype having an X inversion with 46,Y,inv(X) (q12q25) 28 . Dar et alreported that a woman had dysgenesis with primary amenorrhea and she had a de novo inv (X) (q13 q24) 29 . Pericentric inversion of chromosome 1, 3, 5, 6 and 10 are related to abnormal sperm production in infertile men.…”

Section: )mentioning

confidence: 99%

The Cytogenetic Basis of Human Infertility: A Review

Prasad¹,

Jain²

2014

IOSRJDMS

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Section: )mentioning

confidence: 99%

The Cytogenetic Basis of Human Infertility: A Review

Prasad¹,

Jain²

2014

IOSRJDMS

View full text Add to dashboard Cite

“…19,20) One article reported that a woman with de novo inv(X)(q13q24) had ovarian dysgenesis such as primary amenorrhea and absence of pubertal development. 21) Most paracentric inversions are considered to be harmless. However, meiotic crossover in the inverted segment may generate chromosomally unbalanced gametes.…”

Section: )mentioning

confidence: 99%

Paracentric Inversions Found in Prenatal Diagnosis

Lee

Park

et al. 2013

J Genet Med

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Inversions are balanced rearrangements of chromosomes, and the vast majority of paracentric inversions seem to be harmless. 5)The risk of having a phenotypically abnormal child for carriers of paracentric inversions due to the production of unbalanced gametes resulting from recombination during meiotic crossover has been thought to be low. 6) However, a few cases of abnormal offspring due to classic recombination of inversion have been described. Spontaneous abortion, infertility, and mental retardation and/or congenital malformation of offspring have also been reported among paracentric inversion carriers.2)In this study, we characterized paracentric inversions identified in 10 cases observed in prenatal diagnosis at our center during a five-year period.

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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 inversion of Xq and ovarian dysfunction

Abstract: We report on a paracentric inversion X(q13 q24) in a 20-year-old woman with ovarian dysfunction. The findings add evidence on the role of breakpoints in Xq13 and Xq24 in causing ovarian dysfunction. A review of the published data on paracentric inversion of chromosome X is included.

Cited by 5 publications

References 7 publications

The Cytogenetic Basis of Human Infertility: A Review

The Cytogenetic Basis of Human Infertility: A Review

Paracentric Inversions Found in Prenatal Diagnosis

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

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