Inherited 18q23 duplication in a fetus with multiple congenital anomalies (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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Raul Estrada
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A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2–q21.31 associated with multiple congenital abnormalities in a male fetus
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Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review
Pierre Blanc
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Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Satish Maddukuri
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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
Bertrand Mace, Annie Laquerrière
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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
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Prenatal identification of partial 3q duplication syndrome
Magdalena Pasinska
BMC Medical Genomics, 2019
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A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis
Bruno Delobel
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Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defects
Arthur Brothman
American Journal of Medical Genetics Part A, 2005
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De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies
Regina Binz
American Journal of Medical Genetics Part A, 2007
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
Karin Diderich
Molecular Cytogenetics, 2016
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A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Tom MacDougall
American Journal of Medical Genetics Part A, 2015
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Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
Gordon Gowans
American Journal of Medical Genetics, 2003
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De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report
Alvaro Mesoraca
Experimental and Therapeutic Medicine
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Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations
Mariluce Riegel
European Journal of Medical Genetics, 2007
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Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5Mb
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Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations
Azzedine Aboura, Véronique Haddad
American Journal of Medical Genetics Part A, 2012
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De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report
Claudio Giorlandino
Experimental and Therapeutic Medicine, 2023
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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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Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant
Maria Clara Bonaglia
European journal of …, 2008
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Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
Juliette Albuisson
American Journal of Medical Genetics Part A, 2006
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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
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Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome
M. González, Rocío Sánchez-urbina
Case Reports in Genetics, 2013
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