The origin of trisomy 22: Evidence for acrocentric chromosome‐specific patterns of nondisjunction

Hall, Heather E.; Surti, Urvashi; Hoffner, Lori; Shirley, Sofia; Feingold, Eleanor; Hassold, Terry

doi:10.1002/ajmg.a.31918

Cited by 31 publications

(38 citation statements)

References 15 publications

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“…There are, however, important chromosome-specific differences, as evidenced by recent data on two “under-studied” trisomies (13 and 22). In studies of trisomy 22 Hall et al [7] reported a preponderance of maternally-derived cases, typically arising from MI nondisjunction and frequently involving failure of recombination between the homologs. The results were similar for trisomy 13, although with a higher proportion of cases of maternal MII origin [8,9].…”

Section: Studies Of the Origin Of Human Trisomies: The When And Who Omentioning

confidence: 99%

Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew

Hassold

Hunt²

2009

Current Opinion in Pediatrics

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165

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Purpose of review-The relationship between increasing maternal age and trisomy has been recognized for over 50 years and is one of the most important etiological factors associated with any human genetic disorder. Specifically, the risk of trisomy in a clinically recognized pregnancy rises from about 2-3% for women in their twenties to an astounding 30% or more for women in their forties. Thus, as women approach the end of their child-bearing years, errors of chromosome segregation represent the most important impediment to a successful pregnancy.Recent findings-Despite the clinical importance of this relationship, we do not understand how age affects the likelihood of producing a normal egg. Errors that affect chromosome segregation could occur at several stages during the development of the oocyte: in the fetal ovary, either during the mitotic proliferation of oogonia or the early stages of meiosis; in the "dictyate" oocyte, during the 10-50 year period of meiotic arrest; or during the final stages of oocyte growth and maturation, when meiosis resumes and the meiotic divisions take place. Recent evidence from studies of human oocytes and trisomic conceptions and from studies in model organisms implicates errors at each of these stages Summary-It seems likely that there are multiple causes of human age-related nondisjunction, complicating our efforts to understand -and, ultimately, to provide preventative measures for -errors associated with increasing maternal age.

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Section: Studies Of the Origin Of Human Trisomies: The When And Who Omentioning

confidence: 99%

Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew

Hassold

Hunt²

2009

Current Opinion in Pediatrics

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215

165

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“…Around 90% of trisomies originate during paternal or maternal meiosis . Paternal origin of autosomal trisomies is low (0-30% of cases, depending on the chromosome affected) (reviewed by Hall et al, 2007), whereas the paternal contribution to sex chromosome trisomies is more clinically relevant (10% in 47,XXX conditions, 50% in 47,XXY cases and 100% in 47,XYY individuals) (Hall et al, 2006). Trisomy is the result of chromosome missegregation, basically through meiotic non-disjunction (Márquez et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

Meiotic non-disjunction mechanisms in human fertile males

Uroz

Templado

2012

Human Reproduction

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background: In humans, little is known about the mechanisms of non-disjunction working in male meiosis, although considerable attention has been given to these mechanisms in female meiosis. The present study explores the origin of meiotic non-disjunction during human spermatogenesis and the chromosomes most commonly involved in this process. methods:We used Multiplex fluorescence in situ hybridization to carry out meiotic analyses in metaphase I (MI) and metaphase II (MII) spermatocytes from three fertile donors. Testicular biopsy was obtained during a vasectomy procedure.results: We examined a total of 317 MI and 248 MII spermatocytes. The frequency of numerical chromosome abnormalities at MII (14.5%) was 5.5 times higher than at MI (2.5%). We observed 88 (27.7%) spermatocytes I with chromosome bivalents with a low chiasma count, usually small chromosomes displaying two separated univalents. Chromosomes X, Y and 21 were the most commonly found as achiasmate chromosomes at MI and the most frequently involved in disomy at MII. Hyperploidy frequency in spermatocytes II (disomy) was significantly higher (P , 0.001) than that found in spermatocytes I (trisomy).conclusions: Achiasmate non-disjunction and premature separation of sister chromatids appear to be the two main non-disjunction mechanisms during the first meiotic division in human spermatogenesis, and both mechanisms contribute equally to the genesis of aneuploidy. The elevated frequencies of disomy detected in spermatocytes II are significantly higher than those previously described in human spermatozoa, suggesting the existence of a postmeiotic checkpoint monitoring numerical abnormalities.

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“…6 ). The majority of trisomy 22 errors ( 1 96%) occur during oogenesis, predominantly during the first meiotic division [Hall et al, 2007]. Our family declined investigations aiming at determination of the parental origin of the additional chromosome 22.…”

Section: Discussionmentioning

confidence: 96%

Live-Born Trisomy 22: Patient Report and Review

Heinrich

Nanda

Rehn³

et al. 2012

Mol Syndromol

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Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.

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The origin of trisomy 22: Evidence for acrocentric chromosome‐specific patterns of nondisjunction

Cited by 31 publications

References 15 publications

Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew

Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew

Meiotic non-disjunction mechanisms in human fertile males

Live-Born Trisomy 22: Patient Report and Review

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