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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Jun; Vol. 24 (6), pp. 784-93. Date of Electronic Publication: 2015 Oct 28. - Publication Year :
- 2016
-
Abstract
- Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.
- Subjects :
- Beckwith-Wiedemann Syndrome diagnosis
Genetic Counseling standards
Genetic Testing standards
Humans
Prenatal Diagnosis standards
Silver-Russell Syndrome diagnosis
Beckwith-Wiedemann Syndrome genetics
Genetic Counseling methods
Genetic Testing methods
Prenatal Diagnosis methods
Silver-Russell Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 24
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 26508573
- Full Text :
- https://doi.org/10.1038/ejhg.2015.224