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

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...

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Bibliographic Details
Main Authors: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2019/8563095