A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability?
Keywords: Array-CGH; del4q28.3; Intellectual disability; PCDH18 gene
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A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism
Keywords: Array-CGH; Microdeletion; Arthrogryposis; Intellectual disability; HOX genes
19q13 microdeletion syndrome: Further refining the critical region
Keywords: 19q13 microdeletion syndrome; Aplasia cutis; Microcephaly; Array-CGH
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
Keywords: Xp22.2 deletion; Array-CGH; AP1S2
Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy
Keywords: Duplication; 7q36.3; Muscular hypertrophy; Sonic Hedgehog; SHH; Array-CGH
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis
Keywords: Polymicrogyria; Array-CGH; Chromosomal rearrangements;
40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features
Keywords: Array-CGH; Foetal ultrasound; General cytogenetics; Trisomy 5p; Chromosome duplication
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia
Keywords: Array-CGH; FISH; Hypotonia; PCR; Intellectuel disability; Xq27-qter functional disomy; Deletion 3p26.3
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Keywords: 15q24 microdeletion; Goldenhar syndrome; Oculoauriculovertebral spectrum; Array-CGH; Facial asymmetry; Anotia; Microtia
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?
Keywords: Terminal deletion 20p; Del 20p13 → pter; 20p13; 20pter; Microarray; Comparative genomic hybridization; Array-CGH; 44K array-CGH; Chromosome anomaly
Unexpected results in the constitution of small supernumerary marker chromosomes
Keywords: Array-CGH; FISH; Supernumerary marker chromosome; Telomere capture; Prenatal diagnosis;
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
Keywords: Midline facial defects with hypertelorism; Array-CGH; 2q36 deletion; Mosaicism;
Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo
Keywords: Array-CGH; Hibridación genómica comparada; Variación de número de copia; Diagnóstico prenatal; Array-CGH; Comparative genomic hybridization; Copy number variation; Prenatal diagnosis;
SÃndrome de microduplicación 3q29
Keywords: Array-CGH; Microduplicación 3q29; Retraso psicomotor; Array-CGH; Psychomotor delay; 3q29 microduplication;
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
Keywords: 3q25.1–q25.32 deletion; Array-CGH; Developmental delay; Dysmorphic features
A de novo 0.57Â Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1
Keywords: Array-CGH; De novo microdeletion; 11q13.1; Mental retardation; MEN1; Dysmorphic features; Autistic traits; Language disorder; NRXN1; PPP2R5B;
Microdeleción 7p14.1 y cefalopolisindactilia de Greig
Keywords: Microdeleción 7p14.1; Array-CGH; Cefalopolisindactilia de Greig; 7p14.1 microdeletion; Array-CGH; Greig syndrome;
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
Keywords: Array-CGH; X;Y translocation; Xp partial duplication; Prenatal diagnosis;
21Â Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
Keywords: 13q interstitial deletion; Array-CGH; Rare genetic syndromes; Short stature; Growth hormone insufficiency; Psychomotor retardation; Hypertelorism; Broad nasal bridge; Short neck; Micrognathia; Thick helix; Hypotonia; Dysplastic ears;
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
Keywords: Dravet syndrome; BFNIS; Array-CGH; Genetics
Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7
Keywords: Chromosome 7; Paracentric inversion; Recombinants; Deletion 7q; Array-CGH
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
Keywords: Unbalanced translocation t(9;16); Developmental delay; Pericentric inversion 9; Homologous Recombination; Array-CGH; SNP Array; Deletion 9q34; Duplication 16p13
Chromosomal imbalance letter17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome
Keywords: Array-CGH; Mental retardation; 17q21.31 microdeletion syndrome; Pituitary stalk interruption syndrome;
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome
Keywords: Mayer-Rokitansky-Küster-Hauser syndrome; array-CGH; recurrent aberrations; 1q21.1; 17q12; 22q11.21; LHX1; HNF1B
Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos
Keywords: Preimplantation genetic diagnosis; PGD; PGS; array-CGH; array-CGH; CGH; aneuploidy; embryos
9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
Keywords: Xp22.2–22.13 familial duplication; X-linked mental retardation; Developmental delay; Mild dysmorphic facial features; Array-CGH; Array-MAPH; Chromosome X exon-specific oligonucleotide array
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
Keywords: CFTR; mRNA; Duplication; Array-CGH
A chronic obstructive pulmonary disease related signature in squamous cell lung cancer
Keywords: Squamous cell lung carcinoma; COPD; Expression array; Array-CGH;
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
Keywords: MLPA; Array-CGH; Congenital anomalies; Mental retardation; Submicroscopic imbalances; Chromosomal abnormalities;
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer
Keywords: Array-CGH; Histologic type; Prognosis; Gastric cancer;
Characterization of sSMC by FISH and molecular techniques
Keywords: Array-CGH; Dysmorphism; FISH; Supernumerary marker chromosome;
Coffin–Siris syndrome with multiple congenital malformations and intrauterine death: Towards a better delineation of the severe end of the spectrum
Keywords: Array-CGH; Brain malformation; Coffin–Siris syndrome; Corpus callosum agenesis; Dandy Walker; Intrauterine death
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage
Keywords: Microdeletion; array-CGH; meiotic segregation; recurrent miscarriage; translocation;
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2→q24.3 in a girl with autistic features and developmental delay
Keywords: Array-CGH; 2q24.2; 2q24.3; Deletion; Autism; SCN2A; SCN3A
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies
Keywords: 17q; Interstitial duplication; Array-CGH; Psychomotor and speech delay
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings
Keywords: Array-CGH; 22q13 deletion syndrome; Autism; Epilepsy; Atopic dermatitis; Immune system; SHANK3; NCAPH2; CYP2D6
Esophageal stenosis in a child presenting a de novo 7q terminal deletion
Keywords: Esophageal stenosis; 7q terminal deletion; Sonic hedgehog gene; VACTERL; Array-CGH
Chromosomal imbalance letterAn interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2
Keywords: Duplication 13q31q32; Postaxial polydactyly; Array-CGH; PAP-A; postaxial polydactyly type A; GPC5; glypican 5; GPC6; glypican 6; SOX21; sex-determining region Y-box 21;
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms
Keywords: Epilepsy; Chromosome abnormalities; Duplication; Array-CGH; Mental retardation
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Keywords: Bladder exstrophy; Hearing impairment; 22q11.2 microduplication syndrome; Array-CGH
Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
Keywords: Array-CGH; FISH; Wolf-Hirschhorn syndrome critical region; 4p16.3 duplication
Lobular invasive carcinoma of the breast is a molecular entity distinct from luminal invasive ductal carcinoma
Keywords: Breast cancer; Invasive lobular carcinoma; Luminal carcinomas; Array-CGH; Gene expression profiling
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
Keywords: Array-CGH; Novel syndromes; Microdeletion; Mental retardation
Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features
Keywords: 19q13.32 deletion; Mental retardation; Cleft lip and palate; Tetralogy of fallot; Deafness; Array-CGH
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
Keywords: Complex chromosomal rearrangement (CCR); Array-CGH; Cryptic imbalances; CNTNAP5; Mowat–Wilson syndrome (MWS)
Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress
Keywords: 13q deletion; Array-CGH; Holoprosencephaly; Steinfeld syndrome
Genomic aberrations in squamous cell lung carcinoma related to lymph node or distant metastasis
Keywords: Squamous cell lung carcinoma; Array-CGH; Lymph node metastases; Distant metastases; LDM; Chromosomal aberrations;
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Keywords: Idiopathic developmental delay; Mental retardation; Karyotyping; Array-based genome investigation; Array-CGH
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma
Keywords: Array-CGH; Hepatitis C virus; Splenic marginal zone lymphomaSMZL, splenic marginal zone lymphoma; Array-CGH, array comparative genomic hybridization; HCV, hepatitis C virus; CNA, copy number alteration
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis
Keywords: Array-CGH; 1qter Deletion; 18pter Duplication; Microcephaly; Simplified gyral pattern; Vermis hypoplasia; Corpus callosum agenesis; AKT3