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Gonosomale Mosaike

Gonosomal mosaicism

  • Schwerpunktthema: Mosaike in der humangenetischen Diagnostik
  • Published:
medizinische genetik

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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Literatur

  1. Aksglaede L, Skakkebaek NE, Almstrup K, Juul A (2011) Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr 100(6):793–806

    Article  PubMed  Google Scholar 

  2. Amor DJ, Neo WT, Waters E et al (2006) Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism. Prenat Diagn 26(5):443–448

    Article  PubMed  Google Scholar 

  3. Fonseka KG, Griffin DK (2011) Is there a paternal age effect for aneuploidy? Cytogenet Genome Res 133(2–4):280–291

    Article  CAS  PubMed  Google Scholar 

  4. Gardner RJM, Sutherland GR, Shaffer LG (2012) Chromosome abnormalities and genetic counseling. Oxford University Press, New York

    Google Scholar 

  5. Höckner M, Pinggera GM, Günther B et al. (2008) Unravelling the parental origin and mechanism of formation of the 47,XY, i(X)(q10) Klinefelter karyotype variant. Fertil Steril 90(5):2009.e13–17

  6. Hong DS, Reiss AL (2014) Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet 13:306–318

    Article  CAS  PubMed  Google Scholar 

  7. Hook EB, Warburton D (2014) Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet 133(4):417–424

    Article  CAS  PubMed  Google Scholar 

  8. Huang B, Thangavelu M, Bhatt S et al (2002) Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn 22(2):105–110

    Article  PubMed  Google Scholar 

  9. Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A et al (2011) FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Hum Mol Genet 20(10):1925–1936

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364:273–283

    Article  CAS  PubMed  Google Scholar 

  11. Liehr T, Mrasek K, Hinreiner S et al (2007) Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X, + mar karyotype – 17 new cases and a review of the literature. Sex Dev 1(6):353–362

    Article  CAS  PubMed  Google Scholar 

  12. Maiburg M, Repping S, Giltay J (2012) The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril 98(2)253–260

    Article  PubMed  Google Scholar 

  13. Sybert VP, McCauley E (2004) Turner’s syndrome. N Engl J Med 351(12):1227–1238

    Article  CAS  PubMed  Google Scholar 

  14. Van den Berg C, van Opstal D, Brandenburg H, Los FJ (2000) Case of 45,X/46,XY mosaicism wtih non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY). Am J Med Genet 93(3):230–233

    Article  PubMed  Google Scholar 

  15. Velissariou V, Christopoulou S, Karadimas C et al (2006) Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. Eur J Med Genet 49(4):331–337

    Article  CAS  PubMed  Google Scholar 

  16. Wolff DJ, Van Dyke DL, Powell CM et al (2010) Working group of the ACMG laboratory quality assurance committee. Laboratory guideline for Turner syndrome. Genet Med 12(1):52–55

    Article  PubMed  Google Scholar 

  17. Zhong Q, Layman LC (2012) Genetic considerations in the patient with Turner syndrome – 45,X with or without mosaicism. Fertil Steril 98(4):775–779

    Article  PubMed Central  PubMed  Google Scholar 

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

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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  1. Sektion Humangenetik, Department für Medizinische Genetik, Molekulare und Klinische Pharmakologie, Medizinische Universität Innsbruck, Peter-Mayr-Str. 1, 6020, Innsbruck, Österreich

    A. Spreiz &  D. Kotzot

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  1. A. Spreiz
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  2. D. Kotzot
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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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  • DOI: https://doi.org/10.1007/s11825-014-0013-3

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