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Fertil Steril. 2008 Dec;90(6):2328-33. doi: 10.1016/j.fertnstert.2007.10.048. Epub 2008 Feb 4.

Sex chromosome characteristics and recurrent miscarriage.

Author information

  • 1Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland. milja.kaare@helsinki.fi

Abstract

OBJECTIVE:

To investigate whether skewed X chromosome inactivation (XCI) and Y chromosome microdeletions are associated with recurrent miscarrige (RM).

DESIGN:

A retrospective study.

SETTING:

University hospital and genetic laboratory.

PATIENT(S):

Altogether, 46 women with a history of RM, defined as at least three miscarriages, and a control group of 95 women with no history of miscarriage were included in the XCI study. In the Y chromosome microdeletion study 40 male partners of women with RM were studied.

INTERVENTION(S):

Blood samples for DNA extraction.

MAIN OUTCOME MEASURE(S):

X chromosome inactivation patterns in the females were analyzed using a methylation-sensitive assay. The DNA from males was tested for Y chromosome microdeletions by analyzing 37 sequence tagged sites.

RESULTS:

Mildly skewed XCI (>85% inactivation of one allele) was detected in 4 of 43 (9.3%) patients, and 9 of 81 (11.1%) controls. Among these women, extremely skewed XCI (>90% inactivation of one allele) was detected in 2 of 43 (4.7%) patients, and 4 of 81 (4.9%) controls. No statistical differences could be shown between the groups. No microdeletions were found in the male partners.

CONCLUSION(S):

The frequency of both extremely and mildly skewed XCI was similar in patients and control women. Y chromosome microdeletions were not found in spouses of patients. Based on these results we conclude that skewed X inactivation and Y chromosome microdeletions are not associated with RM in our study couples.

[PubMed - indexed for MEDLINE]
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