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. 2024 Feb 28:15:1371166.
doi: 10.3389/fgene.2024.1371166. eCollection 2024.

Sometimes karyotype resolves the case!

Laura Rodríguez  1 , Elena Barros  1 , Jesica Skaarup Murray  2
Affiliations

Sometimes karyotype resolves the case!

Laura Rodríguez et al. Front Genet. .
No abstract available

Keywords: QF-PCR; amniocentesis; array CGH; chorionic villus biopsia; karyotype; mosaicism.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
(A) Electropherogram of QF-PCR, using Devyser Compact v3, showing, in detail, the microsatellites of the X chromosome located in Xq26.1, Xq26.2, and Xq27.1. (B) Karyotyping of the amniotic fluid showing a chromosomal alteration between chromosomes 1 and X in 100% of the analyzed cells (46,XX, der (X)t (1; X) (q23.1; q25). (C1) Chromosome 1 array CGH image. (C2) Detail of the long arm (q) of chromosome 1, showing a very slight upward deviation, suggesting the presence of duplication in a mosaicism form. (D1) Chromosome X array CGH image. (D2) Long arm (q) of chromosome X, showing a very slight downward deviation, suggesting the presence of deletion in a mosaicism form.
See this image and copyright information in PMC

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