Clinical Report Trisomy 17p10-p12 Due to Mosaic Supernumerary Marker Chromosome: Delineation of Molecular Breakpoints and Clinical Phenotype, and Comparison to Other Proximal 17p Segmental Duplications
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چکیده
Clinical Report Trisomy 17p10-p12 Due to Mosaic Supernumerary Marker Chromosome: Delineation of Molecular Breakpoints and Clinical Phenotype, and Comparison to Other Proximal 17p Segmental Duplications Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski, and Lorraine Potocki* Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas Department of Pediatrics, Baylor College of Medicine, Houston, Texas Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, Texas Department of Ophthalmology, Baylor College of Medicine, Houston, Texas Department of Medicine, Baylor College of Medicine, Houston, Texas Department of Neurology, Baylor College of Medicine, Houston, Texas Texas Children’s Hospital, Houston, Texas
منابع مشابه
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
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The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion ...
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