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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Bibliografiska uppgifter
I publikationen:Case Rep Pediatr
Huvudupphovsmän: Silvestre, Catarina, Dupont, Juliette, Silveira Santos, Rosário, Robalo, Brígida, Pereira, Carla, Sampaio, Maria Lurdes
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi 2019
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6487124/
https://ncbi.nlm.nih.gov/pubmed/31110831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/8563095
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