Keywords: Chromosomal microarray; prenatal diagnosis; microdeletion; microduplication; VOUS;
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Keywords: chromosomal abnormalities; chromosomal deletion; chromosomal duplication; chromosomal microarray analysis; congenital heart disease; copy number variation; microdeletion; microduplication; prenatal diagnosis;
Keywords: microdeletion; noninvasive prenatal testing; single-nucleotide polymorphism;
Keywords: Syndrome; Genetic; Microdeletion; Epigenetic; Imprinting;
Keywords: Microdeletion; 10p15.3 syndrome; Language disorder
A de novo 921â¯Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors
Keywords: Microdeletion; 11q13.1; NRXN2; Language delay; Autism; Penetrance;
A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome
Keywords: dNTP-limited PCR; HRM; Microdeletion; Williams-Beuren syndrome;
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia
Keywords: XLA; X-linked agammaglobulinemia; BTK; Bruton's tyrosine kinase; IGHC; Immunoglobulin heavy chain gene locus; SCID; Severe combined immunodeficiency syndrome; BCR; B-cell receptor; VDJ; Variable, diversity and joining gene segments; IGHM; Immunoglobulin h
Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications
Keywords: Microarray; Cell-free DNA; Microdeletion; Microduplication; Copy number variant; Genetic counseling;
Cell-free DNA screening in clinical practice: abnormal autosomal aneuploidy and microdeletion results
Keywords: aneuploidy; cell-free DNA; genetic screening; microdeletion; noninvasive prenatal testing; prenatal diagnosis; positive predictive value; trisomy 13; trisomy 18; trisomy 21;
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
Keywords: Megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2); Hepatic and glial cell adhesion molecule (HEPACAM); 11q24; Microdeletion; Jacobsen syndrome
Overexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3
Keywords: Acute myeloid leukemia; LSAMP; TUSC7; microdeletion; position effect
Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2
Keywords: Chromosome 19; Craniofacial syndrome; Craniosynostosis; Microarray; Microdeletion
Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras
Keywords: Temporal lobe epilepsy; Visual aura; LGI1; Mutation; Microdeletion;
A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: A case report and review of the literature
Keywords: Microdeletion; Chromosome 19p; 19p13.2 deletion; Mild mental retardation; Mild sensorineural hearing loss
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
Keywords: Chromosome 1p31.3; Microdeletion; NFIA gene; Corpus callosum agenesis; Craniofacial defects
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Keywords: 15q22.2; Microdeletion; Intellectual disability; Epilepsy; NMDA receptor-regulated 2 (NARG2); RAR-related orphan receptor A (RORA); Forkhead box B1 (FOXB1)
Exceptional complex chromosomal rearrangement and microdeletions at the 4q22.3q23 and 14q31.1q31.3 regions in a patient with azoospermia
Keywords: Array-CGH; array comperative genomic hybridization; GTG; G-banding; FISH; fluorescence in situ hybridization; CCR; complex chromosomal rearrangements; PHA; phytohemagglutinin; AZF; azoospermic factor; PCR; polymerase chain reaction; SRY; sex determinating
Short clinical reportClinical characterization of DISP1 haploinsufficiency: A case report
Keywords: DISP1; 1q41q42; Microdeletion; Seizure; Array comparative genomic hybridization; CDH; congenital diaphragmatic hernia; EEG; electroencephalography; CGH; comparative genomic hybridization; HH; hedgehog; TLR; toll-like receptor; CDS; coding sequence; UTR; u
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
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome
Keywords: RSTS; Rubinstein-Taybi syndrome; OMIM; Online Mendelian inheritance in man; CREBBP; CREB binding protein; EP300; E1A binding protein p300; CGH; comparative genomic hybridization; PCR; polymerase chain reaction; Cy3-dUTP; deoxyuridine 5â²-triphosphate c
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
Keywords: CDKL5; Microdeletion; Early-onset epileptic encephalopathy; Rett syndrome-like features
Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus
Keywords: Array CGH; Microdeletion; IGF1 gene; Prenatal diagnosis
Routine diagnostic testing of Y chromosome deletions in male infertile and subfertile
Keywords: PAR; pseduoautosomal regions; NRY; non-recombining region Y chromosome; AZF; azoospermia factor; USP9Y; ubiquitin-specific protease 9 Y chromosome; DBY; Dead box on Y; UTY; ubiquitous TPR motif on Y; RBMY; RNA binding motif Y; DAZ; deleted in azoospermia;
Rearrangement in 22q11 implicated in Iranian patients with mental retardation
Keywords: Mental retardation; Chromosome 22; Microdeletion; Microduplication; Semi-quantitative multiplex PCR; MLPA
A canine BCAN microdeletion associated with episodic falling syndrome
Keywords: Brevican; BCAN; Episodic falling syndrome; Cavalier King Charles spaniels; Microdeletion;
Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster
Keywords: NMDAR encephalitis; Childhood; Post-infectious; Microdeletion; HLA cluster
15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems
Keywords: 15q11.2 deletion; Microdeletion; Array CGH; Mental retardation; Delayed development; Learning difficulties; Behavioural problems;
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
Keywords: Bilateral perisylvian polymicrogyria; Microdeletion; West syndrome
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
Keywords: Cockayne syndrome; ERCC6 gene; Mutation; Microdeletion; CS; Cockayne syndrome; NER; Nucleotide excision repair; TCR; Transcription-coupled DNA repair; SNP; Single nucleotide polymorphism; PAH; Phenylalanine hydroxylase;
Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients
Keywords: Genetic disorder; Microdeletion; Genome instability; Lymphocytes; Comet assay;
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
Keywords: 1q41q42; Microdeletion; DISP1; Mental retardation; Midline defects
Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier
Keywords: Aneuploidy; preimplantation embryo; Alagille syndrome; translocation; microdeletion
The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
Keywords: Microdeletion; Microduplication; Syndrome; Microarray; 1q21; 15q13; 15q24; 16p13.1; 16p11.2; 17q21.3;
Uniparental disomies 7 and 14
Keywords: Uniparental disomy (UPD); imprinting; epimutation; microdeletion; Robertsonian translocation; Silver-Russell syndrome; growth retardation; hypoglycaemia; asymmetry; coat-hanger rib sign; omphalocele; learning difficulty; obesity; precocious puberty; diagn
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage
Keywords: Microdeletion; array-CGH; meiotic segregation; recurrent miscarriage; translocation;
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Keywords: Xp22.31; STS; Microarray; Intellectual disability; Autism; Behavior problems; Microdeletion; CNV; SNP
Multiple mechanisms induce ectopic expression of LYL1 in subsets of T-ALL cell lines
Keywords: Basic helix–loop–helix; Homeobox; LIM domain; Microdeletion
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
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))—Causal relationship or coincidence?
Keywords: JME; Microdeletion; 22q11.2; DiGeorge syndrome
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay
Keywords: Cleft lip; Cortical blindness; Developmental delay; Microarray; Microdeletion;
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
Keywords: NSD1 gene; FGFR4 gene; Sotos syndrome; MLPA; Microdeletion; Chromosome 5
3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition
Keywords: 3q29; Microdeletion; Microarray; PDA; Cardiac defect
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
Keywords: 15q24; Diaphragmatic hernia; Mental retardation; Recurrent; Microdeletion
Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
Keywords: Chromosome 6; Microdeletion; Comparative genomic hybridization; Mental retardation; Dysmorphisms
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature
Keywords: Nablus mask-like facial syndrome; Microdeletion; Blepharophimosis; Telecanthus; Happy disposition; Contractures; Chromosome 8q22.1
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
Keywords: Moebius syndrome; Facial palsy; Short tandem repeat; Microdeletion; Candidate gene; Mutation screening
Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
Keywords: CGH; CNV; genomic disorders; microdeletion; microduplication; MLPA
Y chromosome microdeletions in Tunisian infertile males
Keywords: Male infertility; Y chromosome; Microdeletion; AZF region; AzoospermiaInfertilité masculine; Chromosome Y; Microdélétion; Région AZF
FISH Diagnosis of 22q11.2 Deletion Syndrome
Keywords: Fluorescence in situ hybridization; FISH; DiGeorge syndrome (DGS); CATCH 22; Velocardiofacial syndrome (VCFS); Conotruncal anomaly face syndrome (CAFS, CTAF); Microdeletion; 22q11.2, 22q