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.

Downloads

Download data is not yet available.

Downloads

Published

2021-04-15

Issue

Section

Case reports

Most read articles by the same author(s)

<< < 1 2