Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype (original) (raw)
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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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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Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion- Duplication in Chromosome 18q: A Case Report and Review of Literature
Rajitha Ponnala, Vijay Pidugu
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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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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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Parental origin of the supernumerary chromosome in trisomy 18
Stylianos Antonarakis
Clinical Genetics, 2008
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A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage
Tyrone Bentley
American Journal of Medical Genetics Part A, 2005
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Non-disjunction of chromosome 18
Niels Tommerup
Human Molecular Genetics, 1998
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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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Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?
L. Mazzarelli
American Journal of Medical Genetics Part A, 2010
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An Indian diagnostic laboratory case report on mosaic chromosome 18
Prachi Sinkar
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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
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Molecular analysis of the 18q- syndrome--and correlation with phenotype
Lesly Rojas
American journal of human genetics, 1993
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Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype
Chris van Uum, John Engelen
American Journal of Medical Genetics, 2003
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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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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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Inherited 18q23 duplication in a fetus with multiple congenital anomalies
Bertrand Isidor, Madeleine Joubert
European Journal of Medical Genetics, 2008
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Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues
Megan Tucker
American Journal of Medical Genetics Part A, 2007
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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Afef Jelloul
Molecular Cytogenetics, 2019
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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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Phenotypic and Cytogenetic Variety of Pure Partial Trisomy< br/> of Chromosome 16p< br/>
Genevieve Lefort
Acta Medica …, 2009
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Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature
Alessandro Castiglione
Cytogenetic and Genome Research, 2013
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Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)
Odalis Molina Gamboa
RESEARCH RESULTS IN BIOMEDICINE, 2021
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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
Milen Velinov
European Journal of Medical Genetics, 2005
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Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescencein situ hybridization (FISH) and maternal serum screening
Michael Krew
Prenatal Diagnosis, 2002
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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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