Distinct mechanism of formation of the 48, XXYY karyotype

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• 作者：Aránzazu Margallo Balsera (1)
  Manuela Nú?ez Estévez (2)
  Emilia Balboa Beltrán (1)
  Plácida Sánchez-Giralt (3)
  Luz González García (1)
  Trinidad Herrera Moreno (1)
  Mayte García de Cáceres (1)
  José M Carbonell Pérez (1)
  Enrique Galán Gómez (2)
  Raquel Rodríguez-López (1)
  
• 关键词：48 ; XXYY ; 47 ; XYY ; Mechanism origin ; Paternal ; Spermatogenesis
• 刊名：Molecular Cytogenetics
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：6
• 期：1
• 全文大小：385KB
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• 作者单位：Aránzazu Margallo Balsera (1)
  Manuela Nú?ez Estévez (2)
  Emilia Balboa Beltrán (1)
  Plácida Sánchez-Giralt (3)
  Luz González García (1)
  Trinidad Herrera Moreno (1)
  Mayte García de Cáceres (1)
  José M Carbonell Pérez (1)
  Enrique Galán Gómez (2)
  Raquel Rodríguez-López (1)
  
  1. Genetics Unit, Infanta Cristina Hospital, Carretera de Portugal S/N, Badajoz, 06080, Spain
  2. Unit of Genetic Pediatrics, MaternoInfantil Hospital de Badajoz, Badajoz, 06010, Spain
  3. Department of Dietician, Endocrinologist Service, Infanta Cristina Hospital, Badajoz, 06080, Spain
  
• ISSN：1755-8166

文摘

Background To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine the mode of formation. Conventional cytogenetics techniques and multiple Quantitative Fluorescent PCR of STR markers in sexual chromosomes in the patient and his parents. Results 48,XXYY and 47,XYY aneuploidies in the patient and his father, respectively, were identified. The additional X and Y chromosomes showed parental origin. Conclusions An infrequent origin of the 48,XXYY syndrome was demonstrated. Mostly, it is thought to result from an aneuploid sperm produced through two consecutive non disjunction events in both meiosis I and II in a chromosomally normal father, but in our father’s patient a 47,XYY was discovered. It is suggested that a higher incidence of 24,XY and 24,YY sperm may be possible in 47,XYY individuals andan increased risk for aneuploidy pregnancies may exist. Although 48,XXYY patients and Klinefelter syndrome are often compared, recently they are regarded as a distinct genetic and clinical entity.