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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Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q
Andre Megarbane
European Journal of Medical Genetics, 2007
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Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies
Sushil Kumar Jaiswal
Gene, 2015
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Isochromosome 18p Results from Maternal Meiosis II Nondisjunction
I. Lurie
European Journal of Human Genetics, 1996
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Isochromosome 18p in a mother and her child
Judith Dagan
American Journal of Medical Genetics, 1993
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A pseudoisochromosome 18q and an isodicentric chromosome 18*
Nancy Williamson
Clinical Genetics, 2008
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A rare chromosomal disorder - isochromosome 18p syndrome
Vasilica Plaiasu
Mædica, 2011
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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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A case with isochromosome 18p and 2q13 deletion including the BUB1 gene
Akif Ayaz
Clinical Dysmorphology, 2018
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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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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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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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Non-disjunction of chromosome 18
Niels Tommerup
Human Molecular Genetics, 1998
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Parental origin of the supernumerary chromosome in trisomy 18
Stylianos Antonarakis
Clinical Genetics, 2008
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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 hasjbuan Fajar
American Journal of Medical Genetics Part A, 2007
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A case with a rare chromosomal abnormality: isochromosome 18p
Korhan Arslan
Genetic counseling (Geneva, Switzerland), 2010
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De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting
Werner Schempp
Clinical Genetics, 2008
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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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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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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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Natural history of trisomy 18
Nicholas Embleton
Archives of Disease in Childhood-fetal and Neonatal Edition, 1996
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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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Trisomy 18 clustering in Kuwait
Makia Marafie
Clinical Genetics, 2008
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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
Thomas Liehr
American Journal of Medical Genetics Part A, 2006
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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
pelin kiper
Molecular Syndromology
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