Publicação
Mosaic trisomy 22 in a 14-year-old adolescent: A case report
| Resumo: | Introduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mild dysmorphisms were noted and growth velocity was below 25th percentile. An endocrine assessment revealed a hypergonadotropic hypogonadism, hand radiograph showed delayed bone age and pelvic ultrasound showed infantile uterus and absent ovaries. She had a normal female blood karyotype. Blaschko lines were noticed on the upper extremities. Skin karyotype confirmed mosaic trisomy 22. Discussion/Conclusion: Signs and symptoms in mosaic trisomy 22 can be unspecific. Dysmorphisms can be subtle and short stature is a common finding in other disorders. However, Blaschko lines, especially in association with postnatal growth failure, dysmorphias, and hemidystrophy should prompt this diagnosis. |
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| Autores principais: | Cunha, Sara Monteiro |
| Outros Autores: | Meireles, Daniel; Figueiredo, Catarina; Soares, Ana Rita; Freitas, Joana; Oliveira, Maria João; Borges, Teresa |
| Assunto: | Case reports |
| Ano: | 2021 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Sociedade Portuguesa de Pediatria |
| Idioma: | inglês |
| Origem: | Portuguese Journal of Pediatrics |
| Resumo: | Introduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mild dysmorphisms were noted and growth velocity was below 25th percentile. An endocrine assessment revealed a hypergonadotropic hypogonadism, hand radiograph showed delayed bone age and pelvic ultrasound showed infantile uterus and absent ovaries. She had a normal female blood karyotype. Blaschko lines were noticed on the upper extremities. Skin karyotype confirmed mosaic trisomy 22. Discussion/Conclusion: Signs and symptoms in mosaic trisomy 22 can be unspecific. Dysmorphisms can be subtle and short stature is a common finding in other disorders. However, Blaschko lines, especially in association with postnatal growth failure, dysmorphias, and hemidystrophy should prompt this diagnosis. |
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