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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2019/8563095 |
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| _version_ | 1832563054258159616 |
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| author | Catarina Silvestre Juliette Dupont Rosário Silveira Santos Brígida Robalo Carla Pereira Maria Lurdes Sampaio |
| author_facet | Catarina Silvestre Juliette Dupont Rosário Silveira Santos Brígida Robalo Carla Pereira Maria Lurdes Sampaio |
| author_sort | Catarina Silvestre |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e52befb2d9324dc8a9c75b6d6cc7d49a |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-e52befb2d9324dc8a9c75b6d6cc7d49a2025-02-03T01:21:12ZengWileyCase Reports in Pediatrics2090-68032090-68112019-01-01201910.1155/2019/85630958563095Short Stature on a Boy: Mosaicism with an Isodicentric Y ChromosomeCatarina Silvestre0Juliette Dupont1Rosário Silveira Santos2Brígida Robalo3Carla Pereira4Maria Lurdes Sampaio5Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, PortugalDepartment of Human Genetics, Santa Maria Hospital, Lisbon, PortugalDepartment of Human Genetics, Santa Maria Hospital, Lisbon, PortugalPediatric Endocrinology Unit from Department of Pediatrics, Santa Maria Hospital, Lisbon, PortugalPediatric Endocrinology Unit from Department of Pediatrics, Santa Maria Hospital, Lisbon, PortugalPediatric Endocrinology Unit from Department of Pediatrics, Santa Maria Hospital, Lisbon, PortugalMosaicism 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.http://dx.doi.org/10.1155/2019/8563095 |
| spellingShingle | Catarina Silvestre Juliette Dupont Rosário Silveira Santos Brígida Robalo Carla Pereira Maria Lurdes Sampaio Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome Case Reports in Pediatrics |
| title | Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome |
| title_full | Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome |
| title_fullStr | Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome |
| title_full_unstemmed | Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome |
| title_short | Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome |
| title_sort | short stature on a boy mosaicism with an isodicentric y chromosome |
| url | http://dx.doi.org/10.1155/2019/8563095 |
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