A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.600112.x/fullpdf
Reference15 articles.
1. 45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome;Grompe;Am J Med Genet,1992
2. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype;Turner;Hum Genet,2000
3. Risk of malignancy in bilateral streak gonads: the role of the Y chromosome;Krasna;J Pediatr Surg,1992
4. Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature;Schwartz;Am J Med Genet,1997
5. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations;Wolff;Am J Hum Genet,1994
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1. Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype;The Journal of Clinical Endocrinology & Metabolism;2021-08-01
2. Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers;Cytogenetic and Genome Research;2018
3. Characterization of sSMC by FISH and molecular techniques;European Journal of Medical Genetics;2011-05
4. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report;Molecular Cytogenetics;2009-11-12
5. Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature;Sexual Development;2007
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