Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case
Purpose Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the “gold standard” to detect numerical and struc...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
KeAi Communications Co., Ltd.
2020-12-01
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| Serier: | Global Medical Genetics |
| Fag: | |
| Online adgang: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722974 |
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