What question did this study set out to answer?

To present the prenatal diagnosis of isochromosome Xq and its implications for Turner syndrome.

February 22, 2026Pathology0 citations

Prenatal presentation of isochromosome Xq with ambiguous NIPS, QF-PCR and FISH results

DSDeepak Subramanian SFSusannah Ford LGLee-Ann Graham

Key Points

To present the prenatal diagnosis of isochromosome Xq and its implications for Turner syndrome.
Case report of prenatal presentation with ambiguous results from NIPS, QF-PCR, and FISH.
Analysis of chromosomal anomalies in relation to Turner syndrome.
Ambiguous diagnostic results noted from NIPS, QF-PCR, and FISH.
Identification of isochromosome Xq associated with Turner syndrome.

Abstract

Isochromosome Xq is a rare chromosome anomaly, comprised of two Xq arms with loss of Xp. It is most often associated with Turner syndrome, where about 18% of cases are due to 45,X/46,X,i(Xq) mosaicism. 1

问 AI

Bookmark

View Full Paper

Cite This Study

Subramanian et al. (Sun,) studied this question.

synapsesocial.com/papers/699a534bfdaf4e3c1268ee5a https://doi.org/https://doi.org/10.1016/j.pathol.2026.01.236

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

问 AI

Bookmark

View Full Paper