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

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.