Progeny of D/G Translocation Heterozygotes in Familial Down's Syndrome

Hamerton, J.L.; Steinberg, A G

doi:10.1016/s0140-6736(62)92521-7

Cited by 24 publications

(4 citation statements)

References 9 publications

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“…In the first, Hamerton, Cowie, Gianelli, Briggs & Polani (1961) pointed out that both male and female carriers of the 15/21 translocation produced carrier offspring far in excess of normal offspring, although a 1: 1 ratio would have been expected. In the second, however, Hamerton & Steinberg (1962) with the inclusion of additional data and by pooling the results from nine families, show that the production of carrier to normal offspring from female carriers is not significantly different from the expected 1 : 1 ratio. The pooling of data from different families showing male transmission gives similar results.…”

Section: Discussionmentioning

confidence: 88%

Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)

Walker

Harris

1962

Annals of Human Genetics

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Summary A family has been described in which the transmission of a translocation between two chromosomes of the 13–15 group can be traced through at least three generations. All balanced translocation carriers are apparently normal. A close approximation of a 1:1 ratio of carriers: normal has been found in the offspring from such translocation carriers, and this is compared with published data for the transmission of a 15/21 translocation associated with Down's syndrome. There is no conclusive evidence for the occurrence of trisomy in the family. The data suggest the absence of close linkage between the translocation and the ABO, Rhesus, MNS, ‘P’ and Duffy blood‐group loci.

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Section: Discussionmentioning

confidence: 88%

Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)

Walker

Harris

1962

Annals of Human Genetics

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“…The possibility of gametic selection in the inheritance of the chromosome changes underlying ' Down's syndrome ' in man has been considered by Hamerton & Steinberg (1962) and Hamerton (1966, 1968). It was found that 'adjacent segregation' accounted for some 19 yo of the offspring from female translocation heterozygotes, but for only about 6.5 % of offspring from male heterozygotes.…”

Section: The Genetics Of the Mammalian Gamete 97mentioning

confidence: 99%

The Genetics of the Mammalian Gamete

Beatty

1970

Biological Reviews

170

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Summary 1. Study of the association of the somatic and gametic genotypes with the gametic phenotype has been termed the genetics of gametes. The latter is closely associated with problems of fertility and infertility; with the general validity of the postulate of random union of the gametes; with experimental attempts to control sex ratio or other Mendelian segregations; and with the study of chromosomal anomalies. Effects of the post‐segregational genotype (after meiosis) are of exceptional interest. 2. The dimensions of mammalian spermatozoa show numerous patterns of genetic behaviour, such as strain and breed differences, additive variation, heterosis, high heritability, maternal effects, and a tentative ‘paternal cytoplasmic effect’. The high degree of additive genetic determination is reflected in the smooth progress of a genetic selection programme that brought into existence strains of mice with either long or short spermatozoan midpieces. The balance sheet of variation in mammalian spermatozoan dimensions is as follows. Apart from the natural variation between individual spermatozoa of a male, the paramount factors are the genetic ones. Variation is extraordinarily independent of other biological sources of variation and of environmental ones. The high heritability of most spermatozoan dimensions suggests that they are not closely associated with reproductive fitness, whereas a measure of fitness (resistance of spermatozoa to eosin staining) shows a low heritability. 3. Post‐segregational gene action has been sought but not conclusively demonstrated in attempts to recognize X‐ and Y‐bearing spermatozoa visually, and in attempts to control sex ratio by separating them according to electrophoretic or sedimentation behaviour. 4. Variations in the DNA content of spermatozoa, and gross morphological defects, are associated with infertility and their incidence is often genetically controlled. 5. There is controversy over the balance between specific spermatozoan antigens and ‘coating antigens’ acquired from the seminal fluid. Reports that AB individuals (heterozygous for blood‐group antigens) produce phenotypically A and B spermatozoa would indicate post‐segregational gene action but are also controversial. Sex ratio has not yet been controlled by subjecting spermatozoa to anti‐Y‐chromosome antibodies. Genetic (strain) differences exist in spermatozoan antigens. 6. The incidence of non‐eosinophil spermatozoa is a measure of semen fertility. Strain and breed differences exist but the heritability is low. An absence of demonstrable genetic variation in spermatozoan motility may be due to a swamping effect of non‐genetic factors. 7. Diploid spermatozoa differ genetically and phenotypically from the normal haploid ones. The incidence of diploid spermatozoa is associated with infertility and is controlled genetically. The incidence of polyspermy and of supplementary spermatozoa are also controlled genetically. 8. Heterospermic (mixed) insemination from two or more sires discriminates efficiently between the sires in...

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“…The translocation most frequently reported involves the attachment of chromosome number 21 to a chromosome in the 13-14-15 group (so-called 15/21 translocation) while in other instances combinations of 22/21 and 21/ 21 have been observed in translocation mongolism (Atkins, O'Sullivan, & Pryles, 1962;Biesele, Schmid, Lee, & Smith, 1962;Book, Santesson, & Zetterqvist, 1961;Carter & Evans, 1961;Carter, Hamerton, Polani, Gunalp, & Weller, 1960;Ek, Falk, Bergman, & Reitalu, 1961;Fraccaro, Kaijser, & Lindsten, 1960;Hamerton, Cowie, Giannelli, Briggs, & Polani, 1961;Hamerton & Steinberg, 1962;Lehmann & Forssman, 1962;Macintyre, Staples, Steinberg, & Hemple, 1962;Penrose, Ellis, & Delhanty, 1960;Polani, Briggs, Ford, Clarke, & Berg, 1960;Scherz, 1962;Shaw, 1962;Turpin & Lejeune, 1961;Turpin, Lejeune, Lafourcade, & Gautier, 1959). Various families have been described in which Down's syndrome, due to translocation of chromosome number 21, has affected several members of succeeding generations.…”

mentioning

confidence: 98%

Down's Syndrome (mongolism): The heritable aspects.

Lf¹,

Falek²,

Wp³

1964

Psychological Bulletin

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Striking technological advances in the study of human chromosomes have revealed an excess of genetic material in the cells of patients with Down's syndrome. Both the trisomic and translocation forms of mongolism are discussed, as is the assessment of morbidity risks in relatives of a given patient. The origin of the chromosomal abnormalities, and the mechanisms by which they generate the clinical picture of Down's syndrome, constitute questions for further research. When this etiological enigma is resolved optional management of patients and their relatives will depend, even more than at present, upon the active collaboration of psychologists and psychiatrists with human geneticists.

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Progeny of D/G Translocation Heterozygotes in Familial Down's Syndrome

Cited by 24 publications

References 9 publications

Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)

Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)

The Genetics of the Mammalian Gamete

Down's Syndrome (mongolism): The heritable aspects.

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