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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Apr;48(4):682–686.

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

A Mathur 1, L Stekol 1, D Schatz 1, N K MacLaren 1, M L Scott 1, B Lippe 1
PMCID: PMC1682964  PMID: 1673045

Abstract

We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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