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Gonosomale Mosaike

Gonosomal mosaicism

Zusammenfassung

Aberrationen der Geschlechtschromosomen sind mit einer Inzidenz von ca. 0,2 % bei Neugeborenen von großer Relevanz. Häufig liegen sie in Form von numerischen und/oder strukturellen Mosaiken vor. Vor allem aufgrund der variablen Verteilung in verschiedenen Geweben ist die Genotyp-Phänotyp-Korrelation schwierig, was besonders bei pränatalen Befunden eine große Herausforderung darstellt und eine genetische Beratung erforderlich macht. Gonosomale Mosaike führen im weiblichen Geschlecht häufig zu den klinischen Symptomen des Turner-Syndroms (v. a. Kleinwuchs und Infertilität) einem potentiell erhöhten Gonadoblastomrisiko bei Vorhandensein einer XY-Zelllinie. Im männlichen Geschlecht sind Klinefelter-Mosaike ebenfalls häufig (bis ca. 20 %). Mosaike für die Karyotypen 47,XXX und 47,XYY werden seltener beobachtet; dies dürfte auch durch den geringen Krankheitswert und die daraus seltener resultierende Untersuchungsindikation begründet sein.

Abstract

With an incidence of approximately 0.2 % in newborns gonosomal chromosome aberrations are of major relevance for clinical genetics. They frequently occur as numerical and/or structural gonosomal mosaicism. The correlation between genotype and phenotype is poor most probably due to different levels of mosaicism in different tissues and they represent a great challenge especially in prenatal diagnostics, requiring genetic counseling by an experienced clinical geneticist. Postnatally, gonosomal mosaicism in females often leads to the clinical symptoms of Turner’s syndrome (especially short stature and infertility) with an potentially increased risk for gonadoblastoma if an XY cell line is present. In males with Klinefelter’s syndrome mosaicism is also frequent (up to 20 %). Mosaicism in 47,XYY and 47,XXX karyotypes is rarely reported perhaps due to the innocuous phenotype seldom being an indication for chromosome analysis.

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Einhaltung ethischer Richtlinien

Interessenkonflikt

A. Spreiz und D. Kotzot geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Correspondence to D. Kotzot.

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Spreiz, A., Kotzot, D. Gonosomale Mosaike. medgen 26, 309–314 (2014). https://doi.org/10.1007/s11825-014-0013-3

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Schlüsselwörter

  • Chromosomenaberrationen
  • Klinefelter-Syndrom
  • Turner-Syndrom
  • Pränataldiagnostik
  • Karyotypisierung

Keywords

  • Chromosome aberrations
  • Klinefelter syndrome
  • Turner syndrome
  • Prenatal diagnosis
  • Karyotyping