Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q (original) (raw)
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study
M. Cossée
Pathologie Biologie, 2007
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Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
L. Argentiero
European Journal of Human Genetics, 2000
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A rare case ofde novo structural rearrangement of X chromosome diagnosed by amniocentesis
jose carrasco
Prenatal Diagnosis, 1989
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A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning
Gianluca Tornese
Molecular Cytogenetics, 2017
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Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization
Richard J Crout
PLoS ONE, 2009
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Parental Origin and Mechanism of Formation of de novo Chromosome Abnormalities : 25 Cases of Numerical and Structural Abnormalities Determined by Restriction Fragment Length Polymorphisms
Han-Xiang Deng
Acta Medica Nagasakiensia, 1991
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Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy
Gail Wenger
American Journal of Medical Genetics Part A, 2009
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Prenatal detection of an inverted X chromosome in a male
Lawrence Leichtman
Clinical Genetics, 2008
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Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
Enrique Medina-Acosta
Molecular Cytogenetics, 2016
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Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
Fernando Scaglia
American Journal of Medical Genetics, 2004
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Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X
Osamu Samura
American Journal of Medical Genetics, 2003
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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
Corrado Romano
Journal of Medical Genetics, 2007
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Functional disomy of Xp including duplication ofDAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)
Marie-france Portnoï
American Journal of Medical Genetics, 2004
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The parental origin of the extra X chromosome in 47,XXX females
Terry Hassold
American journal of human genetics, 1990
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Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH
Bruno Leheup
Journal of Medical Genetics, 1998
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Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
Jozef Gecz
Journal of Medical Genetics, 1999
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Molecular cytogenetic analysis of ade novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations
Jutta Wirth
American Journal of Medical Genetics, 2004
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Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X
Barbara Panasiuk
Annales de génétique
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X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
Carolyn Brown
American Journal of Medical Genetics, 2003
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Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis
Johannes Zschocke
Clinical Genetics, 2010
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De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern
Isabelle Creveaux
American Journal of Medical Genetics, 2004
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Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females
Laura Gabriela Brown
Proceedings of the National Academy of Sciences, 1989
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Changes in chromosome positioning may contribute to the development of diseases related to X-chromosome aneuploidy
Sergey Razin
Journal of Cellular Physiology, 2007
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Cytogenetic evaluation, fluorescence in situ hybridization, and molecular study of psu idic(X)(pter→q22.3::q22.3→pter) chromosome abberation in a girl with moderate growth retardation
Ingeborg Barisic
Croatian Medical Journal
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Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study
Doriana De Petris
Journal of Medical Genetics, 1998
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Familial occurrence of isodicentric X chromosomes with different breakpoints
Barbara Panasiuk
Clinical Genetics, 2008
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Parental origin of extra chromosomes in persons with X chromosome tetrasomy
Dezso David
Journal of Medical Genetics, 1992
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