Scholars@Duke
Beth Ann Sullivan

Beth Ann Sullivan

James B. Duke Distinguished Professor of Molecular Genetics and Microbiology
Molecular Genetics and Microbiology
Box 3054 DUMC, 361 CARL, Durham, NC 27710
213 Research Drive DUMC 3054, 361 CARL, Durham, NC 27710

Selected Publications

Variation in the CENP-A sequence association landscape across diverse inbred mouse strains.

Journal Article Cell Rep · October 31, 2023 Centromeres are crucial for chromosome segregation, but their underlying sequences evolve rapidly, imposing strong selection for compensatory changes in centromere-associated kinetochore proteins to assure the stability of genome transmission. While this c ... Full text Link to item Cite

Complete genomic and epigenetic maps of human centromeres.

Journal Article Science · April 2022 Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a co ... Full text Link to item Cite

The complete sequence of a human genome.

Journal Article Science · April 2022 Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortiu ... Full text Link to item Cite

Genomic and Epigenetic Foundations of Neocentromere Formation.

Journal Article Annu Rev Genet · November 23, 2021 Centromeres are essential to genome inheritance, serving as the site of kinetochore assembly and coordinating chromosome segregation during cell division. Abnormal centromere function is associated with birth defects, infertility, and cancer. Normally, cen ... Full text Link to item Cite

Expanding studies of chromosome structure and function in the era of T2T genomics.

Journal Article Hum Mol Genet · October 1, 2021 The recent accomplishment of a truly complete human genome has afforded a new view of chromosome structure and function that was limited 30 years ago. Here, we discuss the expansion of knowledge from the early cytological studies of the genome to the curre ... Full text Link to item Cite

Further reading

Chapter · July 29, 2021 Full text Cite

A genetic memory initiates the epigenetic loop necessary to preserve centromere position.

Journal Article EMBO J · October 15, 2020 Centromeres are built on repetitive DNA sequences (CenDNA) and a specific chromatin enriched with the histone H3 variant CENP-A, the epigenetic mark that identifies centromere position. Here, we interrogate the importance of CenDNA in centromere specificat ... Full text Open Access Link to item Cite

Telomere-to-telomere assembly of a complete human X chromosome.

Journal Article Nature · September 2020 After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist1,2. Here w ... Full text Open Access Link to item Cite

Genomic and functional variation of human centromeres.

Journal Article Exp Cell Res · April 15, 2020 Centromeres are central to chromosome segregation and genome stability, and thus their molecular foundations are important for understanding their function and the ways in which they go awry. Human centromeres typically form at large megabase-sized arrays ... Full text Open Access Link to item Cite

A sampling of methods to study chromosome and genome structure and function.

Journal Article Chromosome Res · March 2020 As a scientist, one’s perspective of the human genome is informed by the way it is studied – at the level of single nucleotides, a single gene, a specific genomic region, an entire chromosome, the complete karyotype, or the nucleus that encompasses both th ... Full text Link to item Cite

De Novo Centromere Formation: One's Company, Two's a Crowd.

Journal Article Dev Cell · February 10, 2020 Chromosomes containing two centromeres (dicentrics) trigger chromosome instability that is avoided by the enigmatic process of centromere inactivation. In this issue of Developmental Cell, Palladino et al. (2020) combine in vivo chromosome engineering and ... Full text Link to item Cite

Going the distance: Neocentromeres make long-range contacts with heterochromatin.

Journal Article J Cell Biol · January 7, 2019 Neocentromeres are ectopic centromeres that form at noncanonical, usually nonrepetitive, genomic locations. Nishimura et al. (2019. J. Cell Biol. https://doi.org/10.1083/jcb.201805003) explore the three-dimensional architecture of vertebrate neocentromeres ... Full text Open Access Link to item Cite

Alpha satellite DNA biology: finding function in the recesses of the genome.

Journal Article Chromosome Res · September 2018 Repetitive DNA, formerly referred to by the misnomer "junk DNA," comprises a majority of the human genome. One class of this DNA, alpha satellite, comprises up to 10% of the genome. Alpha satellite is enriched at all human centromere regions and is compete ... Full text Open Access Link to item Cite

Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus).

Journal Article BMC Biol · November 16, 2017 BACKGROUND: The de novo assembly of repeat-rich mammalian genomes using only high-throughput short read sequencing data typically results in highly fragmented genome assemblies that limit downstream applications. Here, we present an iterative approach to h ... Full text Open Access Link to item Cite

Human Centromeres Produce Chromosome-Specific and Array-Specific Alpha Satellite Transcripts that Are Complexed with CENP-A and CENP-C.

Journal Article Dev Cell · August 7, 2017 Human centromeres are defined by alpha satellite DNA arrays that are distinct and chromosome specific. Most human chromosomes contain multiple alpha satellite arrays that are competent for centromere assembly. Here, we show that human centromeres are defin ... Full text Link to item Cite

Expanded Satellite Repeats Amplify a Discrete CENP-A Nucleosome Assembly Site on Chromosomes that Drive in Female Meiosis.

Journal Article Curr Biol · August 7, 2017 Female meiosis provides an opportunity for selfish genetic elements to violate Mendel's law of segregation by increasing the chance of segregating to the egg [1]. Centromeres and other repetitive sequences can drive in meiosis by cheating the segregation p ... Full text Link to item Cite

RNA-dependent stabilization of SUV39H1 at constitutive heterochromatin.

Journal Article Elife · August 1, 2017 Heterochromatin formed by the SUV39 histone methyltransferases represses transcription from repetitive DNA sequences and ensures genomic stability. How SUV39 enzymes localize to their target genomic loci remains unclear. Here, we demonstrate that chromatin ... Full text Open Access Link to item Cite

RNA-dependent stabilization of SUV39H1 at constitutive heterochromatin

Journal Article eLife · August 1, 2017 Heterochromatin formed by the SUV39 histone methyltransferases represses transcription from repetitive DNA sequences and ensures genomic stability. How SUV39 enzymes localize to their target genomic loci remains unclear. Here, we demonstrate that chromatin ... Full text Open Access Cite

α satellite DNA variation and function of the human centromere.

Journal Article Nucleus · July 4, 2017 Genomic variation is a source of functional diversity that is typically studied in genic and non-coding regulatory regions. However, the extent of variation within noncoding portions of the human genome, particularly highly repetitive regions, and the func ... Full text Link to item Cite

Centromere Silencing Mechanisms.

Journal Article Prog Mol Subcell Biol · 2017 Centromere function is essential for genome stability and chromosome inheritance. Typically, each chromosome has a single locus that consistently serves as the site of centromere formation and kinetochore assembly. Decades of research have defined the DNA ... Full text Link to item Cite

Human centromere repositioning within euchromatin after partial chromosome deletion.

Journal Article Chromosome Res · December 2016 Centromeres are defined by a specialized chromatin organization that includes nucleosomes that contain the centromeric histone variant centromere protein A (CENP-A) instead of canonical histone H3. Studies in various organisms have shown that centromeric c ... Full text Link to item Cite

Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles.

Journal Article Genome Res · October 2016 Alpha satellite is a tandemly organized type of repetitive DNA that comprises 5% of the genome and is found at all human centromeres. A defined number of 171-bp monomers are organized into chromosome-specific higher-order repeats (HORs) that are reiterated ... Full text Open Access Link to item Cite

Inheritance of the CENP-A chromatin domain is spatially and temporally constrained at human centromeres.

Journal Article Epigenetics Chromatin · 2016 BACKGROUND: Chromatin containing the histone variant CENP-A (CEN chromatin) exists as an essential domain at every centromere and heritably marks the location of kinetochore assembly. The size of the CEN chromatin domain on alpha satellite DNA in humans ha ... Full text Open Access Link to item Cite

Neocentromeres: a place for everything and everything in its place.

Journal Article Trends Genet · February 2014 Centromeres are essential for chromosome inheritance and genome stability. Centromeric proteins, including the centromeric histone centromere protein A (CENP-A), define the site of centromeric chromatin and kinetochore assembly. In many organisms, centrome ... Full text Link to item Cite

The past, present, and future of human centromere genomics.

Journal Article Genes (Basel) · January 24, 2014 The centromere is the chromosomal locus essential for chromosome inheritance and genome stability. Human centromeres are located at repetitive alpha satellite DNA arrays that compose approximately 5% of the genome. Contiguous alpha satellite DNA sequence i ... Full text Open Access Link to item Cite

Nucleolar organization, ribosomal DNA array stability, and acrocentric chromosome integrity are linked to telomere function.

Journal Article PLoS One · 2014 The short arms of the ten acrocentric human chromosomes share several repetitive DNAs, including ribosomal RNA genes (rDNA). The rDNA arrays correspond to nucleolar organizing regions that coalesce each cell cycle to form the nucleolus. Telomere disruption ... Full text Open Access Link to item Cite

Esperanto for histones: CENP-A, not CenH3, is the centromeric histone H3 variant.

Journal Article Chromosome Res · April 2013 The first centromeric protein identified in any species was CENP-A, a divergent member of the histone H3 family that was recognised by autoantibodies from patients with scleroderma-spectrum disease. It has recently been suggested to rename this protein Cen ... Full text Link to item Cite

Centromere

Chapter · February 27, 2013 Centromeres are essential to accurate segregation of genetic material in both meiosis and mitosis. Visually, the centromere is the site of constriction on metaphase chromosomes. Functionally, it is the site where the proteins of the kinetochore assemble to ... Full text Cite

Nondisjunction

Chapter · February 27, 2013 Accurate chromosome segregation during cell division is essential for the health and viability of cells and organisms. Duplicated chromosomes attach to microtubules and subsequently disjoin to be equally partitioned to daughter cells. Failure to evenly app ... Full text Cite

Centromeres

Chapter · February 15, 2013 The centromere is essential for accurate segregation of genetic material in both meiosis and mitosis. It is the site of the primary constriction on metaphase chromosomes. Functionally, it is where proteins of the kinetochore assemble to hold sister chromat ... Full text Cite

Esperanto for histones: CENP-A, not CenH3, is the centromeric histone H3 variant

Journal Article Chromosome Research · 2013 The first centromeric protein identified in any species was CENP-A, a divergent member of the histone H3 family that was recognised by autoantibodies from patients with scleroderma-spectrum disease. It has recently been suggested to rename this protein Cen ... Full text Cite

Functional epialleles at an endogenous human centromere.

Journal Article Proc Natl Acad Sci U S A · August 21, 2012 Human centromeres are defined by megabases of homogenous alpha-satellite DNA arrays that are packaged into specialized chromatin marked by the centromeric histone variant, centromeric protein A (CENP-A). Although most human chromosomes have a single higher ... Full text Open Access Link to item Cite

A Tribute to Simon W.L. Chan, PhD (1974–2012)

Journal Article Chromosome Research · August 2012 Full text Cite

Dicentric chromosomes: unique models to study centromere function and inactivation.

Journal Article Chromosome Res · July 2012 Dicentric chromosomes are products of genome rearrangement that place two centromeres on the same chromosome. Depending on the organism, dicentric stability varies after formation. In humans, dicentrics occur naturally in a substantial portion of the popul ... Full text Link to item Cite

Centromeres poised en pointe: CDKs put a hold on CENP-A assembly.

Journal Article Dev Cell · January 17, 2012 Featured Publication Eukaryotic centromeres are propagated by incorporation of the centromere-specific histone CENP-A into centromeric chromatin. Silva et al. (2012) now show that cyclin-dependent kinases (CDKs) hold the CENP-A assembly machinery in an inactive state until mit ... Full text Link to item Cite

Genomic size of CENP-A domain is proportional to total alpha satellite array size at human centromeres and expands in cancer cells.

Journal Article Chromosome Res · May 2011 Featured Publication Human centromeres contain multi-megabase-sized arrays of alpha satellite DNA, a family of satellite DNA repeats based on a tandemly arranged 171 bp monomer. The centromere-specific histone protein CENP-A is assembled on alpha satellite DNA within the prima ... Full text Open Access Link to item Cite

Histone H3K4 methylation keeps centromeres open for business.

Journal Article EMBO J · January 19, 2011 Nucleosomes at eukaryotic centromeres combine the histone H3 variant CENP-A and canonical H3 di-methylated at lysine 4 (H3K4me2), whose functional importance within the centromere region remains elusive. In this issue, Bergmann et al reveal a role for H3K4 ... Full text Link to item Cite

Epigenomics of centromere assembly and function.

Journal Article Curr Opin Cell Biol · December 2010 Featured Publication The centromere is a complex chromosomal locus where the kinetochore is formed and microtubules attach during cell division. Centromere identity involves both genomic and sequence-independent (epigenetic) mechanisms. Current models for how centromeres are f ... Full text Link to item Cite

Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes.

Journal Article PLoS Genet · August 12, 2010 Featured Publication Genome rearrangement often produces chromosomes with two centromeres (dicentrics) that are inherently unstable because of bridge formation and breakage during cell division. However, mammalian dicentrics, and particularly those in humans, can be quite stab ... Full text Open Access Link to item Cite

Optical mapping of protein-DNA complexes on chromatin fibers.

Journal Article Methods Mol Biol · 2010 Immunofluorescence (IF) and Fluorescence in situ Hybridization (FISH) are conventional methods used to study the structure and organization of metaphase chromosomes and interphase nuclei. Using these techniques, the locations of whole chromosome territorie ... Full text Link to item Cite

The centromere

Journal Article · December 1, 2009 Centromeres are chromosomal loci that assemble the proteinaceous kinetochore, maintain sister chromatid cohesion, regulate chromosome attachment to the spindle, and direct chromosome movement during cell division. Although the function of centromeres and p ... Full text Cite

MYC activity mitigates response to rapamycin in prostate cancer through eukaryotic initiation factor 4E-binding protein 1-mediated inhibition of autophagy.

Journal Article Cancer Res · October 1, 2009 Loss of PTEN and activation of phosphoinositide 3-kinase are commonly observed in advanced prostate cancer. Inhibition of mammalian target of rapamycin (mTOR), a downstream target of phosphoinositide 3-kinase signaling, results in cell cycle arrest and apo ... Full text Open Access Link to item Cite

DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions.

Journal Article Hum Mol Genet · September 1, 2009 DNA methylation is an epigenetically imposed mark of transcriptional repression that is essential for maintenance of chromatin structure and genomic stability. Genome-wide methylation patterns are mediated by the combined action of three DNA methyltransfer ... Full text Link to item Cite

Histone modifications within the human X centromere region.

Journal Article PLoS One · August 12, 2009 Featured Publication Human centromeres are multi-megabase regions of highly ordered arrays of alpha satellite DNA that are separated from chromosome arms by unordered alpha satellite monomers and other repetitive elements. Complexities in assembling such large repetitive regio ... Full text Open Access Link to item Cite

hBub1 negatively regulates p53 mediated early cell death upon mitotic checkpoint activation.

Journal Article Cancer Biol Ther · April 2009 Our previous studies showed that the depletion of the outer kinetochore protein hBub1 upon activation of spindle assembly checkpoint (SAC) primarily triggers early cell death mediated by p53 rather than aneuploidy. Here, we report that phosphorylation of p ... Link to item Cite

Human gamma-satellite DNA maintains open chromatin structure and protects a transgene from epigenetic silencing.

Journal Article Genome Res · April 2009 The role of repetitive DNA sequences in pericentromeric regions with respect to kinetochore/heterochromatin structure and function is poorly understood. Here, we use a mouse erythroleukemia cell (MEL) system for studying how repetitive DNA assumes or is as ... Full text Link to item Cite

Regulation of mitotic chromosome cohesion by Haspin and Aurora B.

Journal Article Dev Cell · November 2006 In vertebrate mitosis, cohesion between sister chromatids is lost in two stages. In prophase and prometaphase, cohesin release from chromosome arms occurs under the control of Polo-like kinase 1 and Aurora B, while Shugoshin is thought to prevent removal o ... Full text Link to item Cite

Human centromeric chromatin is a dynamic chromosomal domain that can spread over noncentromeric DNA.

Journal Article Proc Natl Acad Sci U S A · March 14, 2006 Featured Publication Human centromeres are specialized chromatin domains containing the centromeric histone H3 variant CENP-A. CENP-A nucleosomes are interspersed with nucleosomes containing histone H3 dimethylated at lysine 4, distinguishing centromeric chromatin (CEN chromat ... Full text Link to item Cite

Structural and functional dynamics of human centromeric chromatin.

Journal Article Annu Rev Genomics Hum Genet · 2006 Centromeres are the elements of chromosomes that assemble the proteinaceous kinetochore, maintain sister chromatid cohesion, regulate chromosome attachment to the spindle, and direct chromosome movement during cell division. Although the functions of centr ... Full text Link to item Cite

Epigenetic inheritance and at the centromere and heterochromatin

Chapter · September 26, 2005 AbstractRNA interference (RNAi) is a conserved gene silencing mechanism by which double‐stranded RNA (dsRNA) are processed into short interfering RNAs (siRNAs) that regulate gene expression and posttranscriptiona ... Full text Cite

Regulation of nuclear Prointerleukin-16 and p27(Kip1) in primary human T lymphocytes.

Journal Article Cell Immunol · September 2005 Prointerleukin-16 (Pro-IL-16) is an abundant, PDZ domain-containing protein expressed in the nucleus and cytoplasm of resting human T lymphocytes. We have previously shown that ectopic expression of Pro-IL-16 in Pro-IL-16-negative human Jurkat cells repres ... Full text Link to item Cite

Control of gene expression and assembly of chromosomal subdomains by chromatin regulators with antagonistic functions.

Journal Article Chromosoma · September 2005 Epigenetic regulation of higher-order chromatin structure controls gene expression and the assembly of chromosomal domains during cell division, differentiation, and development. The proposed "histone code" integrates a complex system of histone modificati ... Full text Link to item Cite

Centromeric chromatin exhibits a histone modification pattern that is distinct from both euchromatin and heterochromatin.

Journal Article Nat Struct Mol Biol · November 2004 Featured Publication Post-translational histone modifications regulate epigenetic switching between different chromatin states. Distinct histone modifications, such as acetylation, methylation and phosphorylation, define different functional chromatin domains, and often do so ... Full text Link to item Cite

Centromeres

Chapter · 2004 Full text Cite

CENP-A chromatin contains "euchromatic" histone modifications.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Centromere round-up at the heterochromatin corral.

Journal Article Trends Biotechnol · March 2002 Full text Link to item Cite

Conserved organization of centromeric chromatin in flies and humans.

Journal Article Dev Cell · March 2002 Recent studies have highlighted the importance of centromere-specific histone H3-like (CENP-A) proteins in centromere function. We show that Drosophila CID and human CENP-A appear at metaphase as a three-dimensional structure that lacks histone H3. However ... Full text Link to item Cite

Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.

Journal Article Genome Biol · 2002 BACKGROUND: Most eukaryotic genomes include a substantial repeat-rich fraction termed heterochromatin, which is concentrated in centric and telomeric regions. The repetitive nature of heterochromatic sequence makes it difficult to assemble and analyze. To ... Full text Link to item Cite

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Journal Article Cell · November 16, 2001 In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive diso ... Full text Link to item Cite

Centromere identity in Drosophila is not determined in vivo by replication timing.

Journal Article J Cell Biol · August 20, 2001 Centromeric chromatin is uniquely marked by the centromere-specific histone CENP-A. For assembly of CENP-A into nucleosomes to occur without competition from H3 deposition, it was proposed that centromeres are among the first or last sequences to be replic ... Full text Link to item Cite

Determining centromere identity: cyclical stories and forking paths.

Journal Article Nat Rev Genet · August 2001 The centromere is the genetic locus required for chromosome segregation. It is the site of spindle attachment to the chromosomes and is crucial for the transfer of genetic information between cell and organismal generations. Although the centromere was fir ... Full text Link to item Cite

Unusual chromosome architecture and behaviour at an HSR.

Journal Article Chromosoma · June 2000 Amplification of sequences within mammalian chromosomes is often accompanied by the formation of homogeneously staining regions (HSRs). The arrangement of DNA sequences within such amplicons has been investigated, but little is known about the chromosome s ... Full text Link to item Cite

Stable dicentric X chromosomes with two functional centromeres.

Journal Article Nat Genet · November 1998 Featured Publication Full text Link to item Cite

Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.

Journal Article Am J Med Genet · January 6, 1998 Cytogenetic studies of 2 sisters with mild microcephaly, growth deficiency, and mild errors of morphogenesis demonstrated a unique combination of multiple trisomies, most often involving chromosomes 8 and 18 either together as sole trisomies or in combinat ... Link to item Cite

Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres.

Journal Article Curr Biol · November 1, 1997 The trilaminar kinetochore directs the segregation of chromosomes in mitosis and meiosis. Despite its importance, the molecular architecture of this structure remains poorly understood [1]. The best known component of the kinetochore plates is CENP-C, a pr ... Full text Link to item Cite

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

Journal Article Hum Mol Genet · August 1997 Recent studies have implicated alpha-satellite DNA as an integral part of the centromere, important for the normal segregation of human chromosomes. To explore the relationship between the normal functioning centromere and alpha-satellite DNA, we have stud ... Full text Link to item Cite

Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.

Journal Article Am J Hum Genet · July 1996 Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian transl ... Link to item Cite

Centromeres of human chromosomes.

Journal Article Environ Mol Mutagen · 1996 The centromere, recognized cytologically as the primary constriction, is essential for chromosomal attachment to the spindle and for proper segregation of mitotic and meiotic chromosomes. Considerable progress has been made in identifying both DNA and prot ... Full text Link to item Cite

Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres.

Journal Article Hum Mol Genet · December 1995 Robertsonian translocations are the most common structural dicentric rearrangements in humans. The stability of these dicentrics is attributed to the inactivation of one centromere by mechanisms which are currently unknown. The presence and amounts of cent ... Full text Link to item Cite

Application of FISH to complex chromosomal rearrangements associated with chronic myelogenous leukemia.

Journal Article Cancer Genet Cytogenet · July 15, 1995 Identification of complex chromosomal rearrangements can be difficult, due either to the limited number and sometimes poor quality of metaphases in bone marrow preparations or to the nature of the rearrangements. Fluorescence in situ hybridization (FISH) u ... Full text Link to item Cite

Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy.

Journal Article Chromosoma · December 1994 Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. To det ... Full text Link to item Cite

Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization.

Journal Article Am J Med Genet · August 15, 1993 Fluorescence in situ hybridization (FISH) using chromosome-specific DNA libraries as painting probes was applied in the analysis of six subtle, balanced chromosome rearrangements. Both fresh and older slides, some of which had been previously G-banded, wer ... Full text Link to item Cite

Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

Journal Article Am J Hum Genet · June 1993 Fluorescence in situ hybridization (FISH) with chromosome-specific DNA libraries was performed on samples from eight patients with de novo chromosomal duplications. In five cases, the clinical phenotype and/or cytogenetic evaluations suggested a likely ori ... Link to item Cite