Socioeconomic and reproductive characteristics of the parents of patients with the G<scp>1</scp>‐trisomy syndrome

Juberg, Richard C.; Goshen, C. Robert; Sholte, F. Glenn

doi:10.1080/19485565.1973.9988070

Cited by 9 publications

(5 citation statements)

References 20 publications

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“…Possible causes have been considered: (1) recessive genes; (2) the infectious hepatitis virus; (3) the autoimmune effect of Hashimoto thyroiditis; (4) ionising radiation; (5) a1-antitrypsin variants; (6) medications and chemicals; (7) the pH at the site of fertilisation; (8) chromosomal variants; and (9) aging of two forms, that is, in years of life and in hours of the ovum before fertilisation.6 The problem of autosomal or sex chromosomal aneuploidy weighs heavily on families and on society considering that it occurs with a frequency of about 5-6 in 1000 live births7 and over 50 in 100 first and second trimester spontaneous abortions.8…”

Section: Discussionmentioning

confidence: 99%

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Juberg¹,

Knops²,

Mowrey³

1985

Journal of Medical Genetics

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Sporadic, non-modal chromosomal spreads may be either hypomodal, in which the number of chromosomes is less than the modal number, or hypermodal, with more than the mode. Hypermodals occur less frequently than hypomodals in routine lymphocytic preparations. The hypomodal spread has generally been considered to be a technical artefact resulting from random loss during the preparation of slides by the splash technique. In contrast, the less frequently occurring hypermodal spread may originate differently and be meaningful. Previously, we called attention to the possibility of their non-random occurrence among the subJects studied in a clinical cytogenetic laboratory.'We showed that the frequency of sporadic, hypermodal spreads from the parents of aneuploid offspring significantly exceeded that found in comparison populations. We suggested mitotic nondisjunction as the origin of these spreads after eliminating other possibilities. Predisposition to lymphocytic mitotic non-disjunction in vitro might reflect an inherent tendency towards nondisjunction, including meiotic non-disjunction which leads to an aneuploid conceptus. An aneuploid conceptus will be either liveborn, with considerable probability of physical and mental abnormalities, or spontaneously aborted. The outcome is particularly dependent on the type of aneuploidy.Here we show that the frequency of sporadic, hypermodal spreads observed in recurrent spontaneous aborters significantly exceeded the frequency in suitable comparison groups. The fre-

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Section: Discussionmentioning

confidence: 99%

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Juberg¹,

Knops²,

Mowrey³

1985

Journal of Medical Genetics

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“…Although sorne papers [Juberg, 1983;Juberg et al, 1973;Mulcahy, 19781 have used resuits on coital infrequency in support of the deiayed fertiiization mechanism, there is no independent evidence for delayed fertilization and significant evidence against it. German's hypothesis of delayed fertilization ieading to rneiotic errors in rnan is based on animal studies of Butcher and Fugo [1967] and Austin [1967]; however, neither of these studies provides evidence that deiayed fertilization increases the incidence of trisomies.…”

Section: Delayed Fertlllzatlon (Postovulatory Oocyte Aging) and Chrommentioning

confidence: 93%

“…In earlier work, Shokeir [1968] found an increased incidence of DS arnong illegitimate infants, and Penrose and Berg [1968] showed that mothers of DS infants had been rnarried longer than matched control mothers. Juberg et al [1973] showed that the intervai preceding the terminal birth of a trisorny 21 child was significantly greater than that before a normal birth. Additional indirect evidence is provided by studies frorn Australia [Muicahy, 19781 and the Netherlands [Jongbloet et al, 19781, in which an increased incidence of DS offspring among Catholics has been explained on the basis of a decreased coital frequency in the ovuiatory rnethod of birth control.…”

Section: Coital Infrequency and Trisomymentioning

confidence: 95%

“…It is important to note that the frequency of DS in offspring of unwed teenage mothers, a group likely to have a decreased coital frequency, is as high as that in mothers aged 35 years [Erickson, 19781. Clearly, sperm aging in the male could account for no more than 20% of the cases of DS; however, it may account for 1) at least a part of the "matemal age effect," 2) the increased frequency of DS in the infants of unwed teenaged mothers, and 3) the occurrence of DS offspring in various situations with low coital rates at the time of conception [Shokeir, 1968;Penrose and Berg, 1968;Juberg et al, 1973;Mulcahy, 1978;Jongbloet et al, 1978;Milstein-Moscati and Beqak, 1981;Juberg, 19831. Although sperm aging in the male would not increase the frequency of chromosomally unbalanced sperm, the experimental evidence Boice, 1982, 1985;Martin-DeLeon et al, 19731 suggests that it could increase the frequency with which such sperm are able to effect fertilization. Suggestions that paternal nondisj unction (leading to chromosomally unbalanced sperm) might be increasing in modern society have come from recent data showing an apparent decrease in the mean maternal age in DS [Lowry et al, 1976;Holmes, 1978;Evans et al, 19781.…”

Section: Observations On and Implications For The Human Sltuatlonmentioning

confidence: 98%

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Sexual behavior and Down syndrome: The biological mechanism

Martin‐DeLeon

Williams

Reynolds³

1987

Am. J. Med. Genet.

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Sufficient evidence of a correlation between infrequent coitus and Down syndrome (DS) has now accumulated to warrant reevaluation of the suggested biological mechanisms. The evidence provides no support for delayed fertilization as the mechanism responsible for this correlation, as was originally proposed by German [Nature 217:516-519, 1968]. A better explanation of this association is provided by the sperm aging hypothesis, which gains its support from both animal studies and chromosomal findings of a paternal contribution to DS. The animal studies supporting this hypothesis show an increased incidence of sperm-derived trisomies resulting from sperm stored for prolonged periods in the male tract. The chromosomal findings show a paternal origin in 20% of DS infants; the sperm aging hypothesis concerns the biological mechanism in this 20%. In addition to explaining the excess of DS for older mothers, the sperm aging hypothesis explains the excess for teenage unwed mothers and indicates that sperm aging from decreased ejaculatory frequency may be a cause of DS in all age groups. Testable directly in humans against German's delayed fertilization hypothesis, the sperm aging hypothesis has immediate clinical implications. It suggests 1) an approach to reduce the incidence of DS and miscarriages and 2) clinical research that will increase knowledge of the circumstances indicating a need for antenatal monitoring.

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“…Juberg et aL [39] reported that the interval preceding the birth of a trisomy 21 child was significantly greater than the interval preceding a normal birth. This observation was consistent with that of Shokeir [40], who observed that 31% of trisomy 21 offspring were derived from illegitimate unions (infrequent intercourse); only 3% of controls were derived from illegitimate unions.…”

Section: Aging Gametes In Humans: Circumstantial Evidence Relatimentioning

confidence: 98%

Pregnancy outcome associated with natural family planning (NFP): scientific basis and experimental design for an international cohort study

et al. 1988

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Although natural family planning (NFP) is a form of contraception without ostensible maternal risks (other than pregnancy), potential fetal risks could exist if aging gametes are involved in inadvertent fertilization. In the following report, we first review animal studies firmly establishing that aging sperm and aging oocytes (delayed fertilization) cause chromosomal abnormalities in mammals and other species. We next review human studies associating decreased coital frequency with trisomy and studies of NFP populations that generally show no increased frequency of anomalous offspring or spontaneous abortions. Our rationale for initiating an international cohort study is presented, along with the experimental design selected. Preliminary findings indicate that the experimental design chosen will indeed provide information allowing NFP safety to be assessed definitively.

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Socioeconomic and reproductive characteristics of the parents of patients with the G1‐trisomy syndrome

Cited by 9 publications

References 20 publications

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Sexual behavior and Down syndrome: The biological mechanism

Pregnancy outcome associated with natural family planning (NFP): scientific basis and experimental design for an international cohort study

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