Molecular studies in three patients with isodicentric Y chromosome.

作者: Liborio Stuppia , Giuseppe Calabrese , Paolo Guanciali Franchi , Rita Mingarelli , Elisena Morizio

DOI: 10.1007/S004390050286

关键词:

摘要: Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations …

参考文章(26)
P N Goodfellow, K D Smith, J R Hawkins, C J Migeon, G D Berkovitz, A Taylor, Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. American Journal of Human Genetics. ,vol. 51, pp. 979- 984 ,(1992)
S Foote, D Vollrath, A Hilton, D. Page, The human Y chromosome: overlapping DNA clones spanning the euchromatic region Science. ,vol. 258, pp. 60- 66 ,(1992) , 10.1126/SCIENCE.1359640
Cathy M. Tuck-Muller, Harold Chen, Jos� E. Mart�nez, Chuen-Cheh Shen, Shibo Li, Christine Kusyk, Denise A. S. Batista, Yogendra M. Bhatnagar, Edmund Dowling, Wladimir Wertelecki, Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature Human Genetics. ,vol. 96, pp. 119- 129 ,(1995) , 10.1007/BF00214200
G. Palka, G. Calabrese, R. Mingarelli, P. Guanciali Franchi, L. Stuppia, E. Morizio, R. Peila, A. Antonucci, Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male Clinical Genetics. ,vol. 48, pp. 213- 216 ,(2008) , 10.1111/J.1399-0004.1995.TB04091.X
Andrew H. Sinclair, Philippe Berta, Mark S. Palmer, J. Ross Hawkins, Beatrice L. Griffiths, Matthijs J. Smith, Jamie W. Foster, Anna-Maria Frischauf, Robin Lovell-Badge, Peter N. Goodfellow, A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Nature. ,vol. 346, pp. 240- 244 ,(1990) , 10.1038/346240A0
Ann C. Chandley, P. Ambros, S. McBeath, T. B. Hargreave, F. Kilanowski, G. Spowart, Short arm dicentric Y chromosome with associated statural defects in a sterile man. Human Genetics. ,vol. 73, pp. 350- 353 ,(1986) , 10.1007/BF00279099
ClausH. Gravholt, Ursula Friedrich, Johannes Nielsen, Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth Human Genetics. ,vol. 88, pp. 49- 52 ,(1991) , 10.1007/BF00204928
G Calabrese, P G Franchi, L Stuppia, R Mingarelli, C Rossi, L Ramenghi, M Marino, E Morizio, R Peila, A Antonucci, A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. Journal of Medical Genetics. ,vol. 31, pp. 804- 806 ,(1994) , 10.1136/JMG.31.10.804
C E Chu, J M Connor, M D Donaldson, C J Kelnar, P J Smail, S A Greene, Detection of Y mosaicism in patients with Turner's syndrome. Journal of Medical Genetics. ,vol. 32, pp. 578- 580 ,(1995) , 10.1136/JMG.32.7.578
Marc Fellous, Philippe Berta, J. Boss Hawkins, Andrew H. Sinclair, Anne Taylor, Beatrice L. Griffiths, Peter N. Goodfellow, Genetic evidence equating SRY and the testis-determining factor Nature. ,vol. 348, pp. 448- 450 ,(1990) , 10.1038/348448A0