ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for Y -                                                              

      0. Liehr et al. unpublished data
  1. Christensen KR, Nielsen J.
    Partial XYY syndrome.
    Humangenetik. 1971;12(4):323-329.
  2. Nielsen J, Friedrich U, Tsuboi T, Dalby A.
    Father and son with karyotype 47,XY,?Yq-.
    Humangenetik. 1971;11(3):247-252.
  3. Yaron Y, Carmon E, Goldstein M, Voskoboinik N, Ochshorn Y, Gelman-Kohan Z, Orr-Urtreger A.
    The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs).
    Prenat Diagn. 2003 Jan;23(1):74-79.
  4. Patsalis PC, Hadjimarcou MI, Velissariou V, Kitsiou-Tzeli S, Zera C, Syrrou M, Lyberatou E, Tsezou A, Galla A, Skordis N.
    Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
    Clin Genet. 1997 Mar;51(3):184-190.
  5. Patsalis PC, Sismani C, Hadjimarcou MI, Kitsiou-Tzeli S, Tzezou A, Hadjiathanasiou CG, Velissariou V, Lymberatou E, Moschonas NK, Skordis N.
    Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
    Clin Genet. 1998 Apr;53(4):249-257.
  6. Causio F, Gentile E, Fischetto R, Archidiacono N, Magro N.
    47,XX + mar karyotype containing genes from the azoospermia factor region. A case report.
    J Reprod Med. 2002 Jul;47(7):575-580.
  7. Diekmann L, Palm K, Pfeiffer RA, Trautmann U, Scholz W, Schroers E, Vogt P, Kohler M.
    Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.
    Hum Genet. 1992 Sep-Oct;90(1-2):181-183.
  8. Mascarello JT, Kimonis V
    Tetrasomy Y syndrome in a child with two idic(Y)(q11.2).
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 180  (Abstractnumber 908).
  9. Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Mhanni A, Chudley AE, Chudoba I, Morash B, Dawson AJ.
    Multicolour banding and PCR analysis of two small derivative Y chromosomes.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 172  (Abstractnumber 863).
  10. Arnedo N, Nogues C, Bosch M, Templado C.
    Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation.
    Hum Reprod. 2005 Feb;20(2):462-468.
  11. Dechend F, Pabst B, Miller K, Schubert S, Wilke G, Graf N.
    A mosaic karyotype 47,XX,+r(Y)(p11.1?q11.2)/46,XX in a female patient referred to ICSI due to male factor infertility..
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p164 (Abstractno. 818)
  12. Weimer J, Metzke-Heidemann S, Plendl H, Caliebe A, Grunewald R, Ounap K, Tammur P, Jonat W, Bartsch O, Siebert R, Arnold N.
    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
    Am J Med Genet A. 2006 Mar 1;140(5):488-495.
  13. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.
    The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
    Eur J Med Genet. 2006 May-Jun;49(3):207-314.
  14. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M.
    Characterisation of supernumerary chromosomal markers: a study of 13 cases.
    Cytogenet Genome Res. 2007;116(1-2):18-23.
  15. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
    32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
    Int J Mol Med 2008, 21(6):705-714.
  16. Engelen JJ, Arens YH, Gondrie ET, Alofs MG, Loneus WH, Hamers AJ.
    Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.
    Am J Med Genet A. 2003 Apr 30;118A(3):287-289.
  17. Clouston HJ, Rolf HJ, Quarell OW, Williams S.
    A cild with two isodicentric Y chromosomes resulting in tetrasomy Yp and nullisomy Yq.
    J Med Gen 2007, 44  Suppl. 1, S103 (Abstractno 3.01)
  18. Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF.
    Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.
    Am J Med Genet A. 2008 Jul 15;146A(14):1828-1831.
  19. Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, Patil S, Ziegler M, Liehr T.
    A neocentric isochromosome Yp present as additional small supernumerary marker chromosome--evidence against U-type exchange mechanism?
    Cytogenet Genome Res. 2009;125(2):115-116.
  20. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
    Characterization of sSMC by FISH and molecular techniques.
    Eur J Med Genet. 2011 2011 May-Jun;54(3):247-255.
  21. Pasantes JJ, Wimmer R, Knebel S, Münch C, Kelbova C, Junge A, Kieback P, Küpferling P, Schempp W.
    47,X,idic(Y),inv dup(Y): A non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation.
    Cytogenet Genome Res. 2012;136(2):157-162.
  22. Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN.
    Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.
    BJOG. 2012 Apr;119(5):614-625.
  23. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  24. Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, Trivedi S, Sheth J.
    Prenatal screening of cytogenetic anomalies - a Western Indian experience.
    BMC Pregnancy Childbirth. 2015 Apr 12;15(1):90.
  25. Song Y, Jin X, Zhao D, Guo Z.
    [Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):378-80.
  26. Zhang H, Liu X, Geng D, Yue F, Jiang Y, Liu R, Wang R.
    Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report.
    Medicine (Baltimore)
    . 2019 Jul;98(30):e16661.
  27. An N, Yu Y, Xi Q, Yue F, Liu R, Li S, Wang R.
    Molecular characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome Y in an infertile male with apparently normal phenotype: A case report and literature review.
    Biomed Res Int. 2019 Nov 19;2019:9398275.
  28. Jiang Y, Yue F, Wang R, Zhang H, Li L, Li L, Li S, Liu R.
    Molecular cytogenetic characterization of an isodicentric Yq and a neocentric isochromosome Yp in an azoospermic male.
    Mol Med Rep. 2020 Feb;21(2):918-926.