Nalaganje...
array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants
Klinefelter syndrome (KS) variants often share common features with classical syndrome but some of these variants present with a distinct phenotype. The incidence of sex chromosome tetrasomy and pentasomy are very less and generally diagnosed after prepubertal age. The early diagnosis of complex and...
Shranjeno v:
| izdano v: | Intractable Rare Dis Res |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7441031/ https://ncbi.nlm.nih.gov/pubmed/32844071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.01026 |
| Oznake: |
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