A chromosome survey of 2,400 normal newborn infants

Walzer, Stanley; Breau, Germaine; Gerald, Park S.

doi:10.1016/s0022-3476(69)80202-7

Cited by 100 publications

(32 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In man, approximately 1 in 1,000 newborns are XYY (Walzer and Gerald, 1977). The potential for fertility of XYY men seems much greater than in the mouse; indeed, Chandley et al (1975) found that XYY men were not over-represented in fertility clinics.…”

Section: Discussionmentioning

confidence: 99%

Evidence that sex chromosome asynapsis, rather than excess Y gene dosage, is responsible for the meiotic impairment of XYY mice

Rodríguez

Burgoyne²

2000

Cytogenet Genome Res

View full text Add to dashboard Cite

There is extensive evidence for the existence of a meiotic checkpoint that acts to eliminate spermatocytes that fail to achieve full sex chromosome synapsis at the pachytene stage of the first meiotic prophase. XYY mice are nearly always sterile, with clear signs of meiotic impairment, and sex chromosome asynapsis has been proposed to underlie this impairment. However, a study of XYY*^X mice (mice having three sex chromosomes but only a single dose of Y genes) revealed that these mice are fertile, and thus implicated Y gene dosage as a major factor in the sterility of XYY mice. To address this question further, sex chromosome synapsis and spermatogenic proficiency were compared between XYY*^X and XYY mice generated in the same litters. This established that differences in spermatogenic proficiency within and between the two genotypes correlated with the frequency of radial trivalent formation (full sex chromosome synapsis); XYY*^X males, as a group, had double the radial trivalent frequency of XYY males. This observation provides strong support for the view that sex chromosome asynapsis (or some consequence thereof), rather than Y gene dosage, is the major factor leading to the meiotic impairment of XYY mice.

show abstract

Section: Discussionmentioning

confidence: 99%

Evidence that sex chromosome asynapsis, rather than excess Y gene dosage, is responsible for the meiotic impairment of XYY mice

Rodríguez

Burgoyne²

2000

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…Translocations of some type are found in 1 in 770 of the newborn popula tion (89)(90)(91)(92)(93). The overall incidence of abortion in carriers of translocations varies from family to family and according to the chromosomes involved.…”

Section: Miscellaneous Anomaliesmentioning

confidence: 99%

Genetic Basis of Abortion

Carr

1971

Annu. Rev. Genet.

View full text Add to dashboard Cite

Chromosome anomalies are the commonest known cause of congenital defect in man. The problem that would otherwise be created by the high frequency of heteroploidy is alleviated by the loss of over 90% of the ab normal conceptuses through spontaneous abortion.All investigators agree that chromosome anomalies are common among abortuses. It is the actual frequency that is a matter for debate. This problem has been compounded by listing all studies together and taking a mean in cidence for heteroploidy (1). The studies in question were not comparable, some being selected, others unselected, and to list them together as a ho mogeneous population was unjustified. However, even unselected studies show a wide range in the frequency of chromosome anomalies in spontaneous abortions (Table 1). The incidence of heteroploidy varies between 8 and 49.5%. As far as the investigators were concerned, the material was unselected. Why, then, are the results so divergent? It is clear that the populations differ in some way and there are three principal factors that could affect the data: variation in the frequency of undetected induced abortions, selection related to the age or type of abortus studied, and geographical or local factors.The presence of large numbers of undetected induced abortions among a series of conceptuses would reduce the frequency of chromosome anomalies. The correct assignment of an abortion as spontaneous or induced is not al ways easy. My own approach has been to study the case history and assess evidence of infection at the time of hospital admission. High fever and administration of antibiotics suggested infection and, by association, inter ference. However, using this approach, "clean" abortions from patients admitted to hospital mainly because of bleeding, would be classified as spon taneous. Stenchever (personal communication) believes that the low inci dence of chromosome anomalies in his series was partly due to an excess of undetected induced abortions. Boue (personal communication) also believes that this factor affected his results. Boue and his co-workers (7) found chro mosome anomalies in 30 % of their first 40 specimens. Among the last 46 specimens, almost half were heteroploid (4,8). BoUl� believes that this change is due, at least in part. to the elimination of induced abortions among their later material. It is certainly a dramatic change and � one that we did not experience in our studies.""It is well known that most embryos in spontaneous abortions have been 65 3021 Annu. Rev. Genet. 1971.5:65-80. Downloaded from www.annualreviews.org by University of Massachusetts -Amherst on 10/10/12. For personal use only. Quick links to online content Further ANNUAL REVIEWS 66 CARRTABLE 1. INCIDENCE OF HETEROPLOIDY IN SPONTANEOUS ABORTIONS Refer-Total Abnor-% % % % % ence mal Abnormal Trisomic 45, X Polyploid Other

show abstract

“…In a study at the Cytogenetic Laboratory, Risskov, of consecutive liveborn children in a Danish maternity hospital during a two-year period we found a frequency of D/D translocations of 1-39%, the frequency of D/D translocations in 31801 liveborn children from six different studies was 0-72/ 1000 (95% confidence limits 0A44=1 10/1000) (Sergovich et al, 1969;Stewart et al, 1969;Walzer, Breau, and Gerald, 1969;Gerald and Walzer, 1970;Lubs and Ruddle, 1970a and b;Ratcliffe et al, 1970;Hamerton et al, 1972;Friedrich and Nielsen, 1973).…”

Section: Resultsmentioning

confidence: 93%