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No Evidence for Genomic Imprinting in Liver-Born Down Syndrome Patients

Published online by Cambridge University Press:  01 August 2014

C. Stoll ,
Y. Alembik ,
B. Dott  and
J. Feingold
C. Stoll*
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France
Y. Alembik
Affiliation:
Inserm, U-15S, Paris, France
B. Dott
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France Inserm, U-15S, Paris, France
J. Feingold
Affiliation:
Inserm, U-15S, Paris, France
*
Institut de Puériculture, 23, rue de la Porte de l'Hôpital, 67091 Strasbourg Cedex, France

Abstract

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Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA plymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases.

The phenotype of Down svndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin.

We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

Keywords

Genomic imprintingDown syndromeChromosomal nondisjunction
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 265 - 271
Copyright
Copyright © The International Society for Twin Studies 1996

References

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