A rare case of mosaic ring turner syndrome with horseshoe kidney

• Auteurs principaux: Kumari Pritti (Auteur), Vineet Mishra (Auteur), Hetvi Patel (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Rearranged X chromosomes in Turner syndrome (TS) generally present with a mild phenotype, but in cases of ring X chromosomes, the incidence of intellectual disability and other congenital abnormalities can be significantly higher depending on the size of the ring and the involvement of X-inactive sp...