Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits (original) (raw)
Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation
Kerstin Hansson
American Journal of Medical Genetics Part A, 2006
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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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Familial deletion 18p syndrome: case report
Nicole Lemieux, Bruno Maranda
BMC medical genetics, 2006
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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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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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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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Three Unusual but Cytogenetically Similar Cases With up to Five Different Cell Lines Involving Structural and Numerical Abnormalities of Chromosome 18
Mar lina
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Case report of de novo dup(18p)/del(18q) and r(18) mosaicism
Keiji Moriyama
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18q Deletion Syndrome – A Case Report
Syed Azad
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Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy
Sevgi Yimenicioglu
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An Indian diagnostic laboratory case report on mosaic chromosome 18
Prachi Sinkar
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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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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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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
roxana kariminejad
European Journal of Human Genetics, 2011
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A patient with chromosome 18p deletion and congenital hypoglossia
Maarten Koudstaal
Clinical dysmorphology, 2018
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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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Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion
Andrea Montella
Journal of Obstetrics & Gynaecology, 2014
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Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q)
Amedea Mencarelli, Paolo Prontera
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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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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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A rare chromosomal disorder - isochromosome 18p syndrome
Vasilica Plaiasu
Mædica, 2011
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Features of Two Cases with 18q Deletion Syndrome
Gül Mutlu
Journal of Clinical Research in Pediatric Endocrinology, 2014
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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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A novel microdeletion/microduplication syndrome of 19p13.13
Betsy Hirsch
Genetics in Medicine, 2010
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A case with a rare chromosomal abnormality: isochromosome 18p
Korhan Arslan
Genetic counseling (Geneva, Switzerland), 2010
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Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking
Caspian Journal of Neurological Sciences (CJNS)
2019
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A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
Vasu Solanki
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