Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? (original) (raw)

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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