Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
http://link.springer.com/content/pdf/10.1186/s13039-015-0141-8.pdf
Reference25 articles.
1. Orendi K, Uhrig S, Mach M, Tschepper P, Speicher MR. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability. Am J Med Genet A. 2013;161A(7):1806–12.
2. Bhattacharya S, Porter M, Amalraj E, Templeton A, Hamilton M, Lee AJ, et al. The epidemiology of infertility in the North East of Scotland. Hum Reprod. 2009;24(12):3096–107.
3. Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G, et al. European Association of Urology guidelines on Male Infertility: the 2012 update. Eur Urol. 2012;62(2):324–32.
4. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL. Origin of a small metacentric chromosome: familial and cytogenic evidence. Clin Genet. 1975;8(5):364–9.
5. Takeda K, Okamura T, Hasegawa T. Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet. 1989;26(3):195–7.
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