Kabuki syndrome-like features associated with a small ring chromosome X andXIST gene expression

A small and active ring x chromosome in

A small and active ring x chromosome in a female with features of Kabuki syndrome

✍ L. Rodríguez; D. Diego-Alvarez; I. Lorda-Sanchez; F.L. Gallardo; M.L. Martínez-F 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 374 KB 👁 2 views

## Abstract A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a cor