X chromosome defects as an etiology of recurrent spontaneous abortion.
Semin Reprod Med
; 18(1): 97-103, 2000.
Article
in En
| MEDLINE
| ID: mdl-11299525
ABSTRACT
Recurrent spontaneous abortion is a significant problem in women's health, yet it remains a poorly understood phenomenon. Many cases of recurrent spontaneous abortion defy diagnosis, and we predict that a subset of these unexplained cases are caused by previously unknown, recessively inherited genetic causes. Here, we provide background on known genetic factors that contribute to spontaneous abortion and describe a novel X chromosome-based genetic mechanism that may be an important cause of recurrent spontaneous abortion. Recessively inherited defects on the human X chromosome would cause no symptoms in carrier females but would be lethal in utero to male conceptions that receive the defective X. Through investigation of the basic biology of the X chromosome, we propose that the female carriers of such traits can be identified through the molecular finding of skewed X chromosome inactivation. Furthermore, we have observed an association between skewed X chromosome inactivation and recurrent pregnancy loss, supporting the hypothesis that X chromosome defects may be an important, previously unknown cause of recurrent pregnancy loss.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
X Chromosome
/
Abortion, Habitual
/
Chromosome Aberrations
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Semin Reprod Med
Year:
2000
Document type:
Article