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

Date of submission: 28-05-2020 | Date of acceptance: 22-10-2020 | Published: 03-04-2021

Authors

  • Sara Monteiro Cunha Department of Pediatrics, Hospital da Senhora da Oliveira, Guimarães, Portugal
  • Daniel Meireles Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal
  • Catarina Figueiredo Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal
  • Ana Rita Soares Department of Genetics, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal
  • Joana Freitas Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal
  • Maria João Oliveira Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal
  • Teresa Borges Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal

Abstract

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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Published

2021-04-15

Issue

Section

Case reports

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