Mosaic trisomy 22 in a 14-year-old adolescent: A case report

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.