Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18 (original) (raw)

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18

John Carey

American journal of human genetics, 1994

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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

Jean-marie Cuisset

American Journal of Medical Genetics Part A, 2008

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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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Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

Satish Maddukuri

American Journal of Medical Genetics Part A, 2013

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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome

Eniko Pivnick

Journal of Medical Genetics, 1990

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Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications

Sylvie Antonini

American Journal of Medical Genetics, 2002

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A girl with duplication 17p10-p12 associated with a dicentric chromosome

Christine Shaw

American Journal of Medical Genetics, 2004

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Characterisation of interstitial duplications and triplications of chromosome 15q11–q13

Simon Thomas

Human Genetics, 2002

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A familial inverted duplication 2q33–q34 identified and delineated by multiple cytogenetic techniques

Stella de Man

European Journal of Medical Genetics, 2007

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Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15

Lisa Jenkins

The American Journal of Human Genetics, 1998

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The phenotypic manifestations of chromosome 17p11.2 duplication

Mary Sweeney

Brain, 1997

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Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q

Stylianos Antonarakis, Niels Michelsen

American Journal of Medical Genetics, 2005

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Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies

Michel Goossens

American Journal of Medical Genetics Part A, 2006

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Phenotype-genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion

Philippos Patsalis

American Journal of Medical Genetics Part A, 2000

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Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication

Burix Mechoso

American Journal of Medical Genetics, 2004

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Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature

Francesca Scarano, Matteo Della Monica

American Journal of Medical Genetics Part A, 2011

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Two Sequence-Ready Contigs Spanning the Two Copies of a 200-kb Duplication on Human 21q: Partial Sequence and Polymorphisms

J. Delabar

Genomics, 1998

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Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

Jean-louis Blouin

Human Genetics, 1991

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Interstitial duplication in the proximal long arm of chromosome 16

Kerstin Hansson

American Journal of Medical Genetics Part A, 2010

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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

Brian Carter

Journal of Medical Genetics, 2012

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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

Marco Fichera

European Journal of Medical Genetics, 2012

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Carmen Orellana

American Journal of Medical Genetics, 2015

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Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature

Inesse Ben Abdallah Bouhjar

Gene, 2013

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