A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage (original) (raw)
Three Unusual but Cytogenetically Similar Cases With up to Five Different Cell Lines Involving Structural and Numerical Abnormalities of Chromosome 18
Mar lina
Journal of Histochemistry & Cytochemistry, 2007
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First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter ? q22.1::q22.1 ? pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q? syndrome
Moritz Meins
American Journal of Medical Genetics, 2003
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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
Frenny Sheth
BMC Medical Genomics
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Non-disjunction of chromosome 18
Niels Tommerup
Human Molecular Genetics, 1998
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Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
David Weaver
American Journal of Medical Genetics, 1994
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Pseudo dicentric chromosome (5;21): A rare example of maternal germline mosaicism
Franco Laccone
Human Reproduction
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Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism: Case Report
Franco Laccone
Human Reproduction, 2001
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Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits
Daniela Giardino, Palma Finelli
European Journal of Medical Genetics, 2010
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Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis
Alberto Plaja
American Journal of Medical Genetics, 2001
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Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review
Fajar Fajar
American Journal of Medical Genetics Part A, 2007
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Case report of de novo dup(18p)/del(18q) and r(18) mosaicism
Keiji Moriyama
Journal of Human Genetics, 2008
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An Indian diagnostic laboratory case report on mosaic chromosome 18
Prachi Sinkar
International Journal of Scientific Reports
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Unique mosaicism of structural chromosomal rearrangement: Is chromosome 18 preferentially involved?
Dominique Smeets
American Journal of Medical Genetics, 2003
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A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation
Rizwan Naeem
American Journal of Medical Genetics Part A, 2005
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Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
M. Biagioli
Clinical Genetics, 2008
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The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report
Sibel Ozler, Vehap Topcu, Ali Ersoy
American journal of medical genetics. Part A, 2015
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Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18
Katherine Lizeth Castellanos Rojas
American journal of human genetics, 1993
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Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20
Gail Stetten
American Journal of Medical Genetics Part A, 2005
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Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
Thomas Liehr
Molecular Cytogenetics, 2008
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Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS
Birgitte Djernes
Journal of Medical Genetics, 1994
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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
roxana kariminejad
European Journal of Human Genetics, 2011
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De novo ?pure? partial trisomy (6)(p22.1?pter) in a chromosome 15 with an enlarged satellite, identified by microdissection
M. Alofs, John Engelen
American Journal of Medical Genetics, 2001
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Parental origin of the supernumerary chromosome in trisomy 18
Stylianos Antonarakis
Clinical Genetics, 2008
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A supernumerary marker chromosome originating from two different regions of chromosome 18
Mariluce Riegel
Journal of Medical Genetics, 2000
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First patient with trisomy 21 accompanied by an additional der(4)(:p11 ? q11:) plus partial uniparental disomy 4p15-16
Anita Heller
American Journal of Medical Genetics, 2003
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