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Patient with a deletion of chromosome 21q and minimal phenotype.
Tinkel-Vernon H, Finkernagel S, Desposito F, Pittore C, Reynolds K, Sciorra L. Tinkel-Vernon H, et al. Among authors: sciorra l. Am J Med Genet A. 2003 Jul 1;120A(1):142-3. doi: 10.1002/ajmg.a.10210. Am J Med Genet A. 2003. PMID: 12794708 No abstract available.
Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.
Wallerstein R, Yu MT, Neu RL, Benn P, Lee Bowen C, Crandall B, Disteche C, Donahue R, Harrison B, Hershey D, Higgins RR, Jenkins LS, Jackson-Cook C, Keitges E, Khodr G, Lin CC, Luthardt FW, Meisner L, Mengden G, Patil SR, Rodriguez M, Sciorra LJ, Shaffer LG, Stetten G, Van Dyke DL, Wang H. Wallerstein R, et al. Among authors: sciorra lj. Prenat Diagn. 2000 Feb;20(2):103-22. Prenat Diagn. 2000. PMID: 10694683
Genetics casebook. Duplication-deletion syndromes.
Day-Salvatore DL, Guzman E, Farren-Chavez D, Sciorra L, Knuppel R. Day-Salvatore DL, et al. Among authors: sciorra l. J Perinatol. 1995 Jul-Aug;15(4):333-7. J Perinatol. 1995. PMID: 8558345 No abstract available.
39 results