Phenotypic and Cytogenetic Variety of Pure Partial Trisomy< br/> of Chromosome 16p< br/> (original) (raw)
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13
Peter Aerssens
European Journal of Medical Genetics, 2005
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Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review
Mariluce Riegel
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Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family
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A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
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Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature
Francesca Scarano, Matteo Della Monica
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16P11.2–P12.2 Duplication Syndrome; a Genomic Condition Differentiated from Euchromatic Variation of 16P11.2
John Barber
European Journal of Human Genetics, 2012
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Phenotypic manifestations of copy number variation in chromosome 16p13.11
Ayelet Erez, Ankita Patel, Fernando Scaglia
European Journal of Human Genetics, 2011
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Interstitial duplication in the proximal long arm of chromosome 16
Kerstin Hansson
American Journal of Medical Genetics Part A, 2010
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Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family
Amal Mohamed
American Journal of Medical Genetics Part A, 2014
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Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17
Paulo Zen
American Journal of Medical Genetics Part A, 2007
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Direct duplication of 8p21.3?p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features
Victoria Siu
American Journal of Medical Genetics, 2001
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Partial Duplication of Chromosome 8p: Report of 5 Patients and Review of Literature Corresponding Author
Makia Marafie
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Trisomy 16p: A longitudinal profile and photo essay
Annemarie Sommer, Matthew Pastore
American Journal of Medical Genetics Part A, 2006
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Partial duplication of chromosome 8p: Report of 5 patients and review of literature
Makia Marafie
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Partial trisomy and monosomy 8p due to inversion duplication
John Engelen
Clinical Genetics, 2008
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Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review
Muhammad Iqbal
Clinical Genetics, 2008
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Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report
Leona Morozin Pohovski
Croatian Medical Journal, 2011
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Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications
Sylvie Antonini
American Journal of Medical Genetics, 2002
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Duplication (5p13→pter): Prenatal diagnosis and review of the literature
Kim Thao Le
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A girl with duplication 17p10-p12 associated with a dicentric chromosome
Christine Shaw
American Journal of Medical Genetics, 2004
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Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3?p23.3 and a rearranged duplication of 8q24.13?qter
Bodil Bjerkehagen
American Journal of Medical Genetics, 2001
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Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features
francine erenberg
Case Reports in Genetics, 2019
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Duplication of 9 p11.2-p13.1: a benign cytogenetic variant
Marilena Di Giacomo
Prenatal Diagnosis, 2004
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