Literature DB >> 11477604

Successful pregnancy in a woman with Bloom syndrome.

C A Chisholm1, M J Bray, L B Karns.   

Abstract

Bloom syndrome is a rare autosomal recessive disorder notable for increased chromosome fragility and an increased rate of somatic mutation. The clinical manifestations include small stature, a characteristic dermatologic lesion, and an excess incidence of malignancy. Fertility is generally reduced. A 19-year-old white woman with Bloom syndrome was successfully treated for preterm labor at 32 weeks' gestation, and ultimately delivered a healthy male infant at 35 weeks' gestation. Reports of pregnancy in women with Bloom syndrome are few. Despite reduced fertility, conception can occur, and women with Bloom syndrome should receive appropriate reproductive counseling to prevent unintended pregnancies and increased surveillance for preterm birth. Copyright 2001 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2001        PMID: 11477604     DOI: 10.1002/ajmg.1437

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

Review 1.  Fertility and sexuality in the spinal cord injury patient.

Authors:  J T Stoffel; F Van der Aa; D Wittmann; S Yande; S Elliott
Journal:  World J Urol       Date:  2018-06-14       Impact factor: 4.226

Review 2.  Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.

Authors:  Christopher Cunniff; Jennifer A Bassetti; Nathan A Ellis
Journal:  Mol Syndromol       Date:  2016-11-05

Review 3.  Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).

Authors:  Antonio La Marca; Elisa Mastellari
Journal:  J Assist Reprod Genet       Date:  2021-01-25       Impact factor: 3.412

Review 4.  Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.

Authors:  Jennie Vagher; Amanda Gammon; Wendy Kohlmann; Joanne Jeter
Journal:  Front Oncol       Date:  2022-03-10       Impact factor: 6.244

  4 in total

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