Karyotype 46, X, Isochromosome Xq: Turner Syndrome Variant and Clinical Implications
1. Introduction The chromosomal constitution identified as 46, X, isochromosome Xq represents a specific structural anomaly of the sex chromosomes. In a typical female karyotype, two complete X chromosomes are present. In this variant, one X chromosome is structurally normal, while the second X chromosome possesses a significant structural defect known as an isochromosome. This … Read more