Makale detayı · 2019 · article
Unexpected Coexistence of a Derivative t(2121) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages
ISSN1424-8581
YÖKSİS
OpenAlex
Yıl2019
Atıf1OpenAlex
Atıf0Semantic Scholar
Yüzdelik%6,1
FWCI0,01,00 = dünya ortalaması
Scopus (SJR)Q3
WoS (JCR)Q4
Veri kaynağı ayrımı
- YÖKSİSYÖKSİS makale kaydı
- YÖKSİS dergi adıCytogenetic and Genome Research
- Katalog eşleşmesi (ISSN)Cytogenetic and Genome Research
- OpenAlexOpenAlex zenginleştirmesi (özet, atıf, konular)
- Semantic Scholaratıf sayısı (OpenAlex ile birleştirilmez)
Özet
The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.
Konular
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