Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum.

Sanger, Ruth; Tippett, Patricia; Gavin, June; Teesdale, Phyllis; Daniels, Geoff

doi:10.1136/jmg.14.3.210

Cited by 59 publications

(23 citation statements)

References 7 publications

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“…in a combined cytoge netic and molecular analysis of 35 spontaneously aborted and 5 liveborn 45.X conceptions, determined that 80% had occurred because of the loss of a paternal sex chromosome. This value agrees well with the earlier estimate of 77% paternal errors based on the Xg blood-group data of Sanger et al (1977). In our data, there was a significantly increased frequency of sex-chromosomal hyperhaploidy, but no concomitant increase in the frequency of sex-chromosomal hypohaploidy.…”

Section: Discussionsupporting

confidence: 93%

The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

Martin

Rademaker

1990

Cytogenet Genome Res

106

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The human sperm/hamster egg fusion technique has been used to analyse 6,821 human sperm chromosome complements from 98 men to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes. In general, hypohaploid sperm complements were more frequent than hyperhaploid complements. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. Among the autosomes, the observed frequency of hyperhaploid sperm equalled the expected frequency (assuming an equal frequency of nondisjunction for all chromosomes) for all chromosome groups. Among individual autosomes, only chromosome 9 showed an increased frequency of hyperhaploidy. The sex chromosomes also showed a significant increase in the frequency of hyperhaploidy. These results are consistent with studies of spontaneous abortions and liveborns demonstrating that aneuploidy for the sex chromosomes is caused by paternal meiotic error more commonly than aneuploidy for the autosomes.

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Section: Discussionsupporting

confidence: 93%

The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

Martin

Rademaker

1990

Cytogenet Genome Res

106

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“…Hassold et al [19881, in a combined cytogenetic and molecular analysis of 35 spontaneously aborted and 5 liveborn 45,X conceptions, determined that 80% had occurred because of the loss of a paternal sex chromosome. This value agrees well with the earlier estimate of 77% paternal errors based on the Xg blood-group data of Sanger et al [1977]. In the data from human sperm chromosome complements, there was a significantly increased frequency of sex-chromosomal hyperhaploidy and a concomitant increase in the frequency of sex-chromosomal hypohaploidy.…”

Section: Discussionsupporting

confidence: 91%

Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes

1991

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The frequency and distribution of aneuploidy was compared in 11,615 karyotyped human sperm and 772 karyotyped human oocytes to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes for human sperm and oocytes. In general, hypohaploid chromosome complements were more frequent than hyperhaploid complements, in sperm and oocytes. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. A conservative estimate of aneuploidy (2 X hyperhaploidy) was approximately 3-4% in the human sperm and 18-19% in human oocytes. All chromosome groups were represented among hyperhaploid human sperm and oocytes. For human sperm, the observed frequency of hyperhaploidy equaled the expected frequency based on the assumption that the frequency of nondisjunction is equal for all chromosome groups, with two exceptions: group G and the sex chromosomes. Among individual chromosomes in human sperm, chromosomes 1 and 21 and the sex chromosomes had a significant excess of hyperhaploidy. For human oocytes, there were fewer hyperhaploid oocytes than expected for chromosome groups C and F and more than expected for chromosome groups D and G. Among individual chromosomes there was a significant excess for chromosome 21. These results indicate that all chromosomes are susceptible to nondisjunction but that chromosome 21 is particularly prone to aneuploidy in both human sperm and oocytes. They also demonstrate that sex chromosome aneuploidy is common in human sperm but not in human oocytes.

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“…Nevertheless, this would account for only a small part of the mechanism underlying growth retardation in Turner syndrome, since the final height is only partly restored by GH therapy. Since in Turner syndrome, 70% of patients have lost their paternal X chromosome (20), we wanted to test the relative impact of paternal versus maternal height. In fact, heights correlated significantly and to a similar degree with final height after GH therapy, but not in untreated patients.…”

Section: Discussionmentioning

confidence: 99%

Final height in young women with Turner syndrome after GH therapy: an open controlled study

Hochberg

Zadik²

1999

European Journal of Endocrinology

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GH therapy has been applied to patients with Turner syndrome for over a decade, but small sample size, delayed initiation of therapy into adolescent age and comparison with historical control subjects limit the usefulness of these studies for appraisal of the effect of GH on final adult height. We report 49 young women with Turner syndrome who completed a clinical trial in an open, non-randomized, agematched controlled study of GH, given as daily s.c. injections at a weekly dose of 8.2 mg/m 2 for 1.9-7.5 years. Final height was defined as the measurement taken 2 years or more after height velocity declined below 2 cm/year and after a bone age of 15 'years'. The gain in height was evaluated in three ways. The mean final height gain, compared with the control group, was 4.4 cm. When corrected for the projected height at inception of therapy, the mean gained height was 5.3 cm above the control group. Shorter girls showed better response to GH then did taller girls. After correcting for parental height, the mean gain was 4.7 cm. The adult height of the GH-treated Turner women was significantly correlated with the target height, whereas no such correlation was obtained for control untreated women. Furthermore, no correlation was observed between height gain and the age or duration of GH therapy, or the age of inception of estrogen replacement therapy. It is concluded that GH therapy augments final height of girls with Turner syndrome by a mean 4.4-5.3 cm, depending on the method of evaluation, and that shorter girls may be preferred candidates for such therapy. GH therapy can be initiated after age 10 years and there is no reason to delay estrogen therapy beyond the age of 12. Indirect evidence suggests that high-dose GH therapy may surmount a pathophysiological resistance in the GH-IGF-I axis.

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Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum.

Cited by 59 publications

References 7 publications

The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes

Final height in young women with Turner syndrome after GH therapy: an open controlled study

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