Down syndrome, paternal age, maternal age and birth order

Jd, Erickson

doi:10.1111/j.1469-1809.1978.tb01896.x

Cited by 99 publications

(46 citation statements)

References 9 publications

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“…Whether paternal age influences the risk of trisomy has been a matter of debate (24,25). FISH studies on human spermatozoa have opened a new way to study this question.…”

Section: Discussionmentioning

confidence: 99%

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Lähdetie¹,

Ajosenpää-Saari²,

Mykkänen³

1996

Environ Health Perspect

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We have studied human spermatozoa from 24 normal, healthy unexposed men, 18 of whom were semen donors at the Sperm Bank in Turku, using multicolor fluorescence in situ hybridization with two chromosome-specific probes. The possible age-related increase in aneuploidy frequencies was assessed. Ten thousand spermatozoa were scored per individual for the presence of hyperploid, i.e., disomic and diploid, cells. The overall hybridization efficiency was 98.8%. The frequency of spermatozoa with two chromosome 1 signals was 11.5±5.2/10,000. The frequency of spermatozoa with two chromosome 7 signals was 6.4 ± 3.9/10,000. Diploidy was present in 15.0 ± 8.9/1 0,000 spermatozoa. Interindividual variation was quite large. No statistically significant correlation between age of the donors (range= 20-46 years) and the frequency of hyperploid spermatozoa was observed. The results give background information on the incidence of hyperploid spermatozoa in unexposed men and encourage the use of this novel technique for future studies on genetic effects in men exposed to potentially aneuploidogenic agents. EnvironHealth Perspect 104(Suppl 3):629-632 (1996)

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“…Whether paternal age influences the risk of trisomy has been a matter of debate (24,25). FISH studies on human spermatozoa have opened a new way to study this question.…”

Section: Discussionmentioning

confidence: 99%

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Lähdetie¹,

Ajosenpää-Saari²,

Mykkänen³

1996

Environ Health Perspect

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“…Altered meiotic recombination laid down in foetal oocytes/mechanical instability at MI -AI transition/AI chromosome malsegregation Penrose (1954), Henderson & Edwards (1968), Warren et al (1987), Sherman et al (1991) German (1968) and Klein et al (1996) Increased miscarriage rate/relaxed selection against T21 conceptions Erickson (1978), Aymé & Lippman-Hand (1982) and Neuhäuser & Krackow (2007) The Oocyte Mosaicism Selection model single crossover on 21q. Fourthly, it is only the more proximal than normal maternal single crossover on 21q that is maternal age dependent (Fig.…”

Section: Hypothesis Referencesmentioning

confidence: 99%

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

Hultén

Patel²,

Jonasson³

et al. 2010

Reproduction

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We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. In particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent largescale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.

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“…States, Erickson [3] could find no evidence whatever of a paternal effect at any age. Stene and Stene [ 13J , in a detailed review of Erickson's study, noted that there was an apparent dearth of cases in his series involving some parental age combinations.…”

Section: Results Of Statistical Studiesmentioning

confidence: 95%

Genetic counseling dilemmas: Down syndrome, paternal age, and recurrence risk after remarriage

Hook

Karp

1980

Am. J. Med. Genet.

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The recent demonstration that about 20&30%of cases of Down syndrome are of paternal origin has again raised interest in the question of the possible contribution of paternal age independent of matcrnal age to a couple's risk of a Down syndrome live birth. In this paper the nature of the available evidence is critically reviewed, interpretations reconciling differences between studies that reached opposite conclusions are presented, and an approach t o genetic counseling in the face of such apparent differences in the literature is discussed. It is not likely that data from ad hoc studies of parental origin of the extra chromosome will be sufficient t o judge the existence or magnitude of patcrnal age-specific risk, and reliance must be made on statistical studies that searched for paternal age effects while controlling for maternal age. The literature is consistent with an apparent doubling of risk for paternal age 5 5 and ovcr, but n o effect at younger paternal ages. With regard to remarriage, it is suggested that if members of a couple with a 47, +21 child remarry it be assumed that the excess risk "travels" t o that new couple which includes the parent in whom nondisjunction occurred in the previous marriage. If parental origin is not known, it is suggested that the risk be calculated on the assumption of a 20-30% likelihood that it was of paternal origin and a 70-807& likelihood that it was of maternal origin, and that the excess ernpiric risks be apportioned accordingly in the new marriages.

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Down syndrome, paternal age, maternal age and birth order

Cited by 99 publications

References 9 publications

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

Genetic counseling dilemmas: Down syndrome, paternal age, and recurrence risk after remarriage

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