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Journal of Assisted Reproduction and Genetics

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01-08-2009 | SHORT COMMUNICATION

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Authors: Merlin G. Butler, Jennifer Sturich, Susan E. Myers, June-Anne Gold, Virginia Kimonis, Daniel J. Driscoll

Published in: Journal of Assisted Reproduction and Genetics | Issue 8/2009

Abstract

Background

Prader-Willi syndrome (PWS) is a complex genetic disorder with errors in genomic imprinting, generally due to a paternal deletion of chromosome 15q11-q13 region. Maternal disomy 15 (both 15s from the mother) is the second most common form of PWS resulting from a trisomic zygote followed by trisomy rescue in early pregnancy and loss of the paternal chromosome 15. However, trisomy 15 or mosaicism for trisomy 15 may be present in the placenta possibly leading to placental abnormalities affecting gestational age and delivery.

Methods and Subjects

We examined growth and gestational data from 167 PWS infants (93 males and 74 females; 105 infants with 15q11-q13 deletion and 62 infants with maternal disomy 15) to determine if there are differences in gestation between the two genetic subtypes.

Results

No significant differences in growth data (birth weight, length, head circumference) or average gestational ages were found between the two genetic subgroups. However, post-term deliveries (> 42 weeks gestation) were more common in the maternal disomy group (i.e., 12 of 62 infants) compared with the deletion group (i.e., 7 of 105 infants) (chi-square test = 6.22; p < 0.02). The distribution of gestational ages in the 15q11-q13 deletion group was more bell-shaped or normal while the distribution in the maternal disomy group suggested a bimodal pattern.

Conclusions

Maternal disomy 15 in PWS may contribute to disturbances in gestational age and delivery by impacting on placental structure or function secondary to the abnormal chromosomal number in the placental cells or in mechanisms leading to the maternal disomy status in PWS infants.

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Title: Is gestation in Prader-Willi syndrome affected by the genetic subtype?
Authors: Merlin G. Butler
Jennifer Sturich
Susan E. Myers
June-Anne Gold
Virginia Kimonis
Daniel J. Driscoll
Publication date: 01-08-2009
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 8/2009
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-009-9341-7

At a glance: The STEP trials

Springer Medicine

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Abstract

Background

Methods and Subjects

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods and Subjects

Results

Conclusions

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