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CHEUNG, SAU WAI

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Item Type	Name
Academic Article	First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial.
Academic Article	Chromosome mosaicism and maternal cell contamination in chorionic villi.
Academic Article	An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue.
Academic Article	Direct chromosome preparations from chorionic villi: a method for obtaining extended chromosomes and recognizing mosaicism confined to the placenta.
Academic Article	Antenatal ultrasound findings in fetal triploidy syndrome.
Academic Article	Use of trophoblast cells in tissue culture for fetal chromosomal studies.
Academic Article	Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Academic Article	Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Academic Article	Sex chromosome marker: clinical significance and DNA characterization.
Academic Article	Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.
Academic Article	A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Academic Article	Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Academic Article	22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Academic Article	Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Academic Article	Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Academic Article	Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article	Increased LIS1 expression affects human and mouse brain development.
Academic Article	Identification of critical regions for clinical features of distal 10q deletion syndrome.
Academic Article	Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Academic Article	Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Academic Article	Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Academic Article	Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding.
Academic Article	22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Academic Article	Exclusion of chromosomal mosaicism in amniotic fluid cultures: efficacy of in situ versus flask techniques.
Academic Article	Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Academic Article	VACTERL association and mitochondrial dysfunction.
Academic Article	Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Academic Article	Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Academic Article	A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features.
Academic Article	Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Academic Article	Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Academic Article	Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Academic Article	High resolution R banding in amniotic fluid cells using the BrdU-Hoechst 33258-Giemsa (RBG) technique.
Academic Article	Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
Academic Article	Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Academic Article	Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Academic Article	Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Academic Article	Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
Academic Article	Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia.
Academic Article	Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
Academic Article	Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Academic Article	Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Academic Article	Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Academic Article	Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.
Academic Article	Delineation of the proximal 3q microdeletion syndrome.
Academic Article	Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set.
Academic Article	Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
Academic Article	15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
Academic Article	De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
Academic Article	Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
Academic Article	Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Academic Article	Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
Academic Article	Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Academic Article	Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Academic Article	Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Academic Article	Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting.
Academic Article	A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.
Academic Article	A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Academic Article	Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations.
Academic Article	Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Academic Article	Genomic and clinical characteristics of microduplications in chromosome 17.
Academic Article	Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.
Academic Article	Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.
Academic Article	Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Academic Article	Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article	Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
Academic Article	HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
Academic Article	MECP2 duplications in six patients with complex sex chromosome rearrangements.
Academic Article	Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Academic Article	Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.
Academic Article	Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?
Academic Article	Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Academic Article	Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
Academic Article	Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Academic Article	Identification of de novo copy number variants associated with human disorders of sexual development.
Academic Article	Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article	Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Academic Article	Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Academic Article	The phenotype of recurrent 10q22q23 deletions and duplications.
Academic Article	Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
Academic Article	Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Academic Article	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Academic Article	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Academic Article	Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Academic Article	A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
Academic Article	Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
Academic Article	A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.
Academic Article	Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Academic Article	Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14.
Academic Article	Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.
Academic Article	Confirmation of paternal disomy in a twin molar pregnancy. A case report.
Academic Article	The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Academic Article	Congenital diaphragmatic hernia in WAGR syndrome.
Academic Article	Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Academic Article	Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.
Academic Article	WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.
Academic Article	Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article	Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Academic Article	High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.
Academic Article	Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Academic Article	Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Academic Article	Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
Academic Article	Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
Academic Article	Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
Academic Article	Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Academic Article	Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article	Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Academic Article	Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Academic Article	Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Academic Article	A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Academic Article	Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Academic Article	Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
Academic Article	10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
Academic Article	Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Academic Article	Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Academic Article	A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Academic Article	OEIS complex associated with chromosome 1p36 deletion: a case report and review.
Academic Article	Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.
Academic Article	Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.
Academic Article	Introductory comments on special section-genomic microduplications: When adding may equal subtracting.
Academic Article	Challenges in clinical interpretation of microduplications detected by array CGH analysis.
Academic Article	Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
Academic Article	Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics.
Academic Article	Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Academic Article	Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article	Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Academic Article	Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Academic Article	Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article	DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Academic Article	Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Concept	Chromosomes, Human, Pair 18
Concept	Chromosomes, Human, Pair 12
Concept	Chromosomes, Human, Pair 15
Concept	X Chromosome Inactivation
Concept	Sex Chromosome Aberrations
Concept	Y Chromosome
Concept	Chromosomes, Human, Pair 16
Concept	Chromosomes, Human, Pair 17
Concept	Chromosome Banding
Concept	Chromosome Breakage
Concept	Chromosomes, Human, Pair 14
Concept	Physical Chromosome Mapping
Concept	Chromosomes, Human, Pair 11
Concept	Chromosomes, Human, Pair 1
Concept	Chromosomes, Human, Pair 19
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 4
Concept	Chromosomes, Human, Pair 5
Concept	Chromosomes, Human, Pair 21
Concept	Chromosomes, Human, Pair 8
Concept	Chromosome Painting
Concept	Sex Chromosome Disorders
Concept	Chromosome Mapping
Concept	Chromosome Aberrations
Concept	Chromosome Deletion
Concept	Chromosomes, Human, Pair 10
Concept	Chromosome Inversion
Concept	Chromosomes, Human, Pair 7
Concept	Chromosomes, Human, Pair 6
Concept	Chromosome Breakpoints
Concept	Chromosomes, Human, Pair 2
Concept	X Chromosome
Concept	Chromosomes, Human, Pair 13
Concept	Chromosomes, Human, Pair 9
Concept	Chromosome Disorders
Concept	Chromosomes, Human, Pair 22
Academic Article	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article	TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Academic Article	Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Academic Article	SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
Academic Article	CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Academic Article	Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Academic Article	Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
Academic Article	Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.
Academic Article	Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Academic Article	Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Academic Article	Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
Academic Article	Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Academic Article	Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Academic Article	Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Academic Article	TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article	Accurate description of DNA-based noninvasive prenatal screening.
Academic Article	Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
Academic Article	Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article	De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Academic Article	Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
Academic Article	Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Academic Article	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Academic Article	DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Academic Article	Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.
Academic Article	4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Academic Article	Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
Academic Article	Mechanisms for Complex Chromosomal Insertions.
Academic Article	Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Academic Article	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article	Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Academic Article	Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
Academic Article	Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Academic Article	Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.
Academic Article	Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Academic Article	Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.
Academic Article	Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Academic Article	A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Academic Article	Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Concept	Sex Chromosome Disorders of Sex Development
Concept	Chromosome Duplication
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Academic Article	Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Academic Article	Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Academic Article	Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Academic Article	Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article	Noninvasive prenatal screening for fetal sex chromosome aneuploidies.
Academic Article	Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.

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Chromosomes Human Pair 3