Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

• Main Authors: Catarina Silvestre (Author), Juliette Dupont (Author), Rosário Silveira Santos (Author), Brígida Robalo (Author), Carla Pereira (Author), Maria Lurdes Sampaio (Author)
• Format: Book
• Published: Hindawi Limited, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short statu...