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Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome
- Source :
-
Fertility & Sterility . Jun2010, Vol. 94 Issue 1, p350.e12-350.e15. 0p. - Publication Year :
- 2010
-
Abstract
- Objective: To describe the parental origin and the mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)[23]/45,X[8] karyotype in a patient with mild Turner syndrome. Design: Case report. Setting: A university hospital. Patient(s): A 23-year-old woman with normal height, gonadal dysgenesis, and mild Turner stigmata. Intervention(s): Genotype-phenotype correlation, array-based copy number analysis, fluorescence in situ hybridization with locus-specific probes, and microsatellite marker–mediated haplotype analysis subsequent to whole genome amplification of microdissected chromosomes. Main Outcome Measures: Genotype-phenotype correlation, mechanism of formation, and parental origin. Result(s): Formation in paternal meiosis by refolding in itself and unequal recombination between Xp and Xq were found as the most likely mechanism of formation. Conclusion(s): Formation of der(X) chromosomes in females can be more complex than previously thought. The nearly normal height of this patient could be explained by a combination of trisomy of the Xp-located SHOX gene and mosaicism with a 45,X cell line. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 00150282
- Volume :
- 94
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Fertility & Sterility
- Publication Type :
- Academic Journal
- Accession number :
- 50968867
- Full Text :
- https://doi.org/10.1016/j.fertnstert.2009.12.040