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Journal of Obstetrics and Gynaecology Volume 40, 2020 - Issue 2
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Case Reports

First prenatal case of 48,XXYY syndrome detected by maternal cell-free DNA testing

Jian LiPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaView further author information
,
Li ZhenPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaView further author information
,
Min PanPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaView further author information
&
Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou, ChinaCorrespondence[email protected]
View further author information
Pages 270-272 | Published online: 24 Jul 2019

References

  • Bibbins PE, Jr, Anderson RL, Rary JM, Jones HW, Jr. 1982. The prenatal diagnosis of the 48,XXYY syndrome. Prenatal Diagnosis 2:123–125.
  • Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. 2017. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics &Amp; Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology 50:302–314.
  • Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. 2015. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics &Amp; Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology 45:249–266.
  • Hanley AP, Blumenthal JD, Lee NR, Baker EH, Clasen LS, Giedd JN. 2015. Brain and behavior in 48, XXYY syndrome. NeuroImage Clinical 8:133–139.
  • Lorda-Sanchez I, Binkert F, Hinkel KG, Moser H, Rosenkranz W, Maechler M. 1992. Uniparental origin of sex chromosome polysomies. Human Heredity 42:193–197.
  • Meschede D, Nekarda T, Kececioglu D, Löser H, Vogt J, Miny P, et al. 1995. Congenital heart disease in the 48,XXYY syndrome. Clinical Genetics 48:100–102.
  • Nyberg RH, Karhu R, Karikoski R, Simola KO. 1994. The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. Prenatal Diagnosis 14:644–645.
  • Russell LM, Strike P, Browne CE, Jacobs PA. 2007. X chromosome loss and ageing. Cytogenetic and Genome Research 116:181–185.
  • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837.
  • Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 2011. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatrica (Oslo, Norway: 1992) 100:851–860.
  • Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N. 2013. Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences. American Journal of Medical Genetics Part A 161A:268–272.
  • Zhang Q-S, Li D-Z. 2009. A case of 48,XXYY syndrome detected prenatally by QF-PCR. Journal of Maternal-Fetal and Neonatal Medicine 22:1214–1216.

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