Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome
Joint Authors
Silvestre, Catarina
Dupont, Juliette
Silveira Santos, Rosário
Robalo, Brígida
Pereira, Carla
Sampaio, Maria Lurdes
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-14
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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 stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic.
After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism.
This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests.
There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.
American Psychological Association (APA)
Silvestre, Catarina& Dupont, Juliette& Silveira Santos, Rosário& Robalo, Brígida& Pereira, Carla& Sampaio, Maria Lurdes. 2019. Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome. Case Reports in Pediatrics،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1143780
Modern Language Association (MLA)
Silvestre, Catarina…[et al.]. Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome. Case Reports in Pediatrics No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1143780
American Medical Association (AMA)
Silvestre, Catarina& Dupont, Juliette& Silveira Santos, Rosário& Robalo, Brígida& Pereira, Carla& Sampaio, Maria Lurdes. Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome. Case Reports in Pediatrics. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1143780
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143780