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Chromosome 11

Human chromosome 11 is one of the 23 pairs of chromosomes in the human genome, classified as an autosome, and spans approximately 135 million base pairs (bp), representing between 4 and 4.5 percent of the total DNA in cells.^[1] It contains an estimated 1,300 to 1,400 protein-coding genes, making it one of the most gene-dense chromosomes despite its average size among the 22 autosomes.^[1] Notable for its role in growth regulation and disease susceptibility, chromosome 11 harbors key imprinted regions, such as 11p15.5, which includes genes like IGF2, H19, CDKN1C, and KCNQ1OT1 involved in genomic imprinting and disorders like Beckwith-Wiedemann syndrome and Silver-Russell syndrome.^[1] Additionally, it hosts over 40 percent of the human olfactory receptor genes, clustered in multiple loci, contributing to the sense of smell.^[2] Chromosome 11 is particularly rich in genes associated with developmental and oncogenic processes, including WT1 at 11p13 (linked to Wilms tumor and WAGR syndrome) and PAX6 (essential for eye development).^[1] The short arm (11p) features regions prone to deletions or duplications leading to syndromes such as Potocki-Shaffer syndrome (11p11.2 deletion).^[1] On the long arm (11q), abnormalities are implicated in cancers like neuroblastoma, Jacobsen syndrome (11q deletion), and Emanuel syndrome (translocation involving 11q and 22q).^[1] Other significant genes include INS (insulin) at 11p15.5, critical for glucose metabolism, and HBB (hemoglobin beta) at the same locus, mutations in which cause beta-thalassemia and sickle cell anemia.^[3] Structural variations, such as ring chromosomes or partial trisomies, can disrupt gene function and lead to intellectual disability, growth abnormalities, and congenital anomalies.^[1] Sequencing efforts have revealed a gene density of about 11.6 genes per megabase, with over 1,500 protein-coding genes identified in early annotations, underscoring its complexity and disease relevance.^[4] Ongoing genomic research continues to refine annotations, highlighting chromosome 11's contributions to hematopoiesis, sensory function, and tumor suppression.^[4]

Overview

Physical Characteristics

Chromosome 11 is one of the 22 autosomes in the human genome and spans approximately 135 million base pairs, representing between 4 and 4.5 percent of the total DNA content in cells. This size positions it as one of the smaller autosomes, though it is notable for its relatively high gene density compared to many others.^[3] Morphologically, chromosome 11 is classified as submetacentric, with the centromere located slightly off-center, resulting in a shorter p arm and a longer q arm. This structure is typical of the medium-sized chromosomes in group C of the human karyotype.^[5] The sequence of chromosome 11 is fully characterized in the current human reference genome GRCh38, spanning approximately 135 million base pairs.^[6] Its overall GC content averages around 41.6%, slightly above the genome-wide average of 40.9%, with certain regions exhibiting elevated GC levels that correlate with increased gene richness.^[7] These high-GC domains contribute to the chromosome's status as one of the most gene-dense in the human genome.^[4]

Genomic Position and Composition

Chromosome 11 is one of the 22 pairs of autosomes in the human karyotype, appearing as the 11th largest pair when visualized during metaphase of mitosis, with one homolog inherited from the maternal parent and the other from the paternal parent.^[1] This positioning places it among the medium-sized chromosomes, contributing approximately 4.3% of the total haploid genome length.^[3] In terms of compositional elements, chromosome 11 harbors a substantial portion of the human olfactory receptor (OR) gene repertoire, containing 369 out of 856 total OR genes, which accounts for over 40% of these genes and underscores its role in olfactory perception.^[2] These OR genes are organized into multiple clusters across the chromosome, reflecting tandem duplications that have amplified this gene family.^[8] Additionally, chromosome 11 features significant imprinted regions, particularly at 11p15.5, which encompasses a cluster of genes subject to parent-of-origin-specific expression and plays a critical role in fetal growth regulation.^[9] The chromosome's sequence is dominated by non-coding DNA, comprising a substantial proportion of repetitive elements typical of the human genome, including transposons such as LINEs and SINEs that constitute much of its interspersed repeats.^[10] Segmental duplications, which are low-copy repeats greater than 1 kb in length with high sequence identity, are also prominent on chromosome 11, contributing to genomic instability and evolutionary plasticity in this region.^[11] These repetitive sequences, including both ancient transposon insertions and more recent duplications, make up a significant fraction of the chromosome's architecture, influencing its structural variation. Evolutionarily, chromosome 11 exhibits high synteny conservation across primates, maintaining its overall gene order and centromeric positioning from the boreoeutherian mammalian ancestor through to modern humans and great apes.^[12] This conservation is particularly evident in the olfactory receptor gene family, where expansions via gene duplication events have occurred in primate lineages, adapting to sensory needs despite some pseudogenization in higher primates.^[13]

Genes

Gene Count and Density

Chromosome 11 harbors approximately 1,300 to 1,400 protein-coding genes according to the latest GENCODE and Ensembl annotations as of 2025, while the total gene count, encompassing non-coding RNAs, exceeds 2,000.^[14]^[15] This places it among the more gene-dense autosomes in the human genome. The protein-coding gene density on chromosome 11 is approximately 9.7 genes per megabase (1,316 genes over 135 Mb), one of the higher densities among autosomes.^[16]^[1] This elevated density is influenced by factors such as the clustering of olfactory receptor genes, which account for a substantial portion of the chromosome's genetic content, and shorter intergenic distances observed in specific bands that allow for tighter packing of genes.^[17] Historically, the initial sequencing of chromosome 11, completed in 2006, identified 2,347 genes, including 1,524 protein-coding ones, marking a significant milestone in human genome assembly.^[17] Subsequent refinements, such as those from the Consensus Coding Sequence (CCDS) project in 2016, reduced the protein-coding count to 1,224 by excluding uncertain or pseudogenic annotations and incorporating novel open reading frames (ORFs), reflecting ongoing improvements in annotation accuracy. These updates highlight the dynamic nature of gene catalogs, driven by advances in sequencing and computational prediction that better distinguish functional elements from pseudogenes.^[14]

Notable Protein-Coding Genes

Chromosome 11 harbors several notable protein-coding genes that play critical roles in fundamental biological processes, including metabolism, DNA repair, development, and cellular protection. These genes exemplify the chromosome's contributions to essential physiological functions, with their products influencing processes from glucose regulation to genomic stability.^[18] The INS gene, located at 11p15.5, encodes insulin, a peptide hormone essential for regulating carbohydrate and lipid metabolism by facilitating glucose uptake in cells.^[19] This gene spans approximately 1.4 kb and consists of three exons separated by two introns, enabling the production of a proinsulin precursor that is processed into mature insulin in pancreatic beta cells.^[20] Adjacent to INS, the HBB gene at 11p15.4 encodes the beta-globin subunit, a key component of hemoglobin that binds oxygen in red blood cells for transport throughout the body.^[21] Beta-globin forms tetrameric hemoglobin structures with alpha-globin chains, ensuring efficient oxygen delivery to tissues and carbon dioxide removal.^[22] In the realm of DNA repair, the ATM gene at 11q22.3 encodes the ataxia-telangiectasia mutated protein, a serine/threonine kinase that activates cellular responses to DNA double-strand breaks by phosphorylating downstream targets involved in cell cycle checkpoints and repair pathways.^[23] This large gene, comprising 66 exons, coordinates genomic integrity maintenance across various cell types.^[24] Developmental regulation is highlighted by the WT1 gene at 11p13, which encodes a zinc finger transcription factor crucial for kidney and gonad formation during embryogenesis.^[25] WT1 acts as both an activator and repressor of target genes, influencing mesenchymal-to-epithelial transitions essential for urogenital system development.^[26] The MEN1 gene, situated at 11q13.1, encodes menin, a scaffold protein that functions as a tumor suppressor by regulating transcription and chromatin remodeling in endocrine tissues.^[27] Menin interacts with complexes like histone methyltransferases to control gene expression involved in cell proliferation and hormonal regulation.^[28] Finally, the CAT gene at 11p13 encodes catalase, a heme-containing enzyme that decomposes hydrogen peroxide into water and oxygen, thereby mitigating oxidative stress in cells.^[29] This tetrameric protein is vital for protecting cellular components from reactive oxygen species generated during metabolism.^[30] These genes underscore functional categories on chromosome 11, such as metabolic pathways exemplified by INS and HBB, DNA damage response via ATM, and developmental processes through WT1, alongside protective mechanisms from CAT and endocrine control by MEN1.^[18]

Associated Conditions

Monogenic Disorders

Monogenic disorders associated with chromosome 11 arise from mutations in single genes, typically point mutations or small insertions/deletions, leading to specific clinical phenotypes through disrupted protein function. These conditions highlight the role of chromosome 11 genes in critical physiological processes such as insulin secretion, hemoglobin structure, DNA repair, endocrine regulation, and renal development. Below, key examples are discussed, focusing on inheritance, molecular mechanisms, and manifestations. Mutations in the INS gene (11p15.5) cause rare monogenic forms of diabetes, often classified under type 1 diabetes mellitus due to absolute insulin deficiency. These include permanent neonatal diabetes mellitus 4 (PNDM4; OMIM #618858), which presents with autosomal dominant or recessive inheritance depending on the variant. Heterozygous missense mutations, such as R89C or C96Y, disrupt proinsulin folding in the endoplasmic reticulum, triggering stress responses and beta-cell apoptosis, resulting in severe hyperglycemia typically diagnosed before 6 months of age and requiring lifelong insulin therapy.^[31]^[32] Autosomal dominant cases predominate, though compound heterozygous mutations can occur in recessive forms.^[33] The HBB gene (11p15.4) harbors variants responsible for sickle cell anemia and beta-thalassemia, both autosomal recessive hemoglobinopathies with high prevalence in malaria-endemic regions due to heterozygous carrier protection against severe Plasmodium falciparum infection. In sickle cell anemia (OMIM #603903), the Glu6Val point mutation (rs334) alters beta-globin, promoting deoxygenated hemoglobin polymerization that distorts erythrocytes into sickle shapes, causing vaso-occlusive crises, chronic hemolysis, and organ damage.^[34]^[35] Beta-thalassemia (OMIM #613985) results from over 200 HBB variants, including nonsense mutations like codon 39 C>T (beta-zero, no beta-globin production) or splice-site changes (beta-plus, reduced production), leading to ineffective erythropoiesis, microcytic anemia, and iron overload in homozygotes.^[34]^[36] The carrier frequency exceeds 10% in parts of sub-Saharan Africa, the Mediterranean, and Southeast Asia for these conditions.^[35] Ataxia-telangiectasia (OMIM #208900) is an autosomal recessive disorder caused by biallelic loss-of-function mutations in the ATM gene (11q22.3), impairing DNA double-strand break repair and cell cycle checkpoints. Affected individuals exhibit progressive cerebellar neurodegeneration with ataxia onset by age 2 years, oculomotor apraxia, and telangiectasias on conjunctivae and skin appearing between ages 3-6.^[37] Immunodeficiency manifests as thymic hypoplasia, lymphocytopenia, IgA deficiency in ~60% of cases, and recurrent sinopulmonary infections, while cancer predisposition includes T-cell leukemias and B-cell lymphomas in ~25% of patients.^[37]^[38] Inactivating mutations in the MEN1 gene (11q13.1) underlie multiple endocrine neoplasia type 1 (OMIM #131100), an autosomal dominant tumor suppressor disorder with nearly complete penetrance by age 50. Germline heterozygous loss-of-function variants, such as nonsense or frameshift mutations, lead to menin protein deficiency, promoting tumorigenesis in endocrine tissues. Parathyroid adenomas develop in 95% of cases, causing primary hyperparathyroidism; pituitary adenomas (42%, often prolactin-secreting) result in hormonal excess; and pancreatic islet tumors (54%, including gastrinomas and insulinomas) drive syndromes like Zollinger-Ellison.^[39]^[40] Wilms tumor (OMIM #194070) frequently involves WT1 gene (11p13) mutations, occurring sporadically in ~90% of cases or familially in <1% with autosomal dominant inheritance and incomplete penetrance. Germline heterozygous mutations, often missense or deletions, act as the first hit in a two-hit tumor suppressor model, with somatic loss of the wild-type allele promoting nephroblastomal proliferation; these are associated with genitourinary anomalies like hypospadias or cryptorchidism in syndromes such as Denys-Drash. Tumors typically arise unilaterally between ages 2-5 years, with bilateral involvement in 5-10% of cases.^[41]^[42]

Structural Abnormalities and Syndromes

Structural abnormalities involving chromosome 11, including deletions, duplications, and translocations, often result in contiguous gene syndromes with multi-gene disruptions leading to complex phenotypes. These conditions typically arise from de novo events or inherited rearrangements, affecting growth, development, and organ function through dosage imbalances in imprinted or clustered genes. Diagnostic confirmation relies on cytogenetic analysis, such as chromosomal microarray or fluorescence in situ hybridization (FISH), combined with clinical evaluation. Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic or genomic alterations at the imprinted 11p15.5 region, including paternal uniparental disomy (20% of cases), loss of maternal methylation at imprinting control region 2 (IC2, ~50%), or gain of paternal methylation at IC1 (~5%), which dysregulate genes like IGF2 and H19.^[43] Duplications or microdeletions in this locus can also contribute, particularly in familial cases (~9%). Clinically, BWS presents as an overgrowth disorder with macroglossia (90%), macrosomia or hemihyperplasia (45-65%), omphalocele (44%), neonatal hypoglycemia (30-60%), and an elevated risk of embryonal tumors such as Wilms tumor or hepatoblastoma (8% overall, up to 28% in certain subtypes).^[43] Diagnosis requires at least two major features (e.g., macroglossia and omphalocele) or one major and one minor (e.g., visceromegaly), confirmed by molecular testing for 11p15.5 alterations, with tumor surveillance recommended due to the multi-gene involvement.^[43] Potocki-Shaffer syndrome is a contiguous gene deletion syndrome caused by interstitial deletions at 11p11.2, typically ranging from 1.2 to 4.5 Mb, encompassing genes such as PAX6, STK3, SIX6, and ALX4. These de novo deletions (most cases) lead to haploinsufficiency, resulting in intellectual disability (moderate to severe), distinctive craniofacial features (brachycephaly, hypertelorism, broad nasal bridge), macrocephaly, hypotonia, and skeletal anomalies like craniosynostosis or parietal foramina. Additional features may include hearing loss, vision impairment, and developmental delays. Diagnosis is confirmed by chromosomal microarray or FISH, with clinical scoring based on multiple features.^[44] Jacobsen syndrome, also known as 11q terminal deletion disorder, results from a partial monosomy of the long arm of chromosome 11, typically a 7-16 Mb deletion with breakpoints at 11q23.3-qter, occurring de novo in 85% of cases or via unbalanced translocation in 15%.^[45] This contiguous gene deletion affects multiple loci, including FLI1 (linked to thrombocytopenia) and ETS1 (associated with cardiac defects), leading to a spectrum of features. Key clinical manifestations include intellectual disability, distinctive facial dysmorphism (e.g., hypertelorism, down-slanting palpebral fissures), thrombocytopenia or Paris-Trousseau syndrome (95%), congenital heart defects (50-95%, such as ventricular septal defects or hypoplastic left heart), growth retardation, and skeletal or immunologic anomalies.^[45] Diagnosis is established through clinical assessment of these syndromic traits and genetic confirmation via microarray or FISH, with early hematologic and cardiac monitoring essential.^[45] Emanuel syndrome arises from an unbalanced supernumerary der(22)t(11;22)(q23;q11.2) chromosome, resulting in trisomy for 11q23-qter and 22q11.2-qter segments, inherited from a parental balanced translocation carrier in over 99% of cases through 3:1 meiotic malsegregation.^[46] This translocation-derived aneuploidy causes multi-gene dosage effects, manifesting as severe developmental delays, pre- and postnatal growth deficiency, microcephaly, hypotonia, craniofacial dysmorphism (e.g., ear anomalies in ~70%), congenital heart defects (~60%, including tetralogy of Fallot), renal malformations (~30%), and genital anomalies in males.^[46] High infant mortality (up to 10-30%) is often due to cardiac or respiratory issues; diagnosis involves karyotyping to detect the der(22) or microarray for copy number gains, with parental testing to assess recurrence risk (4-10% for maternal carriers).^[46] Abnormalities of 11q, such as partial deletions or unbalanced translocations, are associated with increased risk of neuroblastoma, a pediatric cancer originating from neural crest cells. Loss of 11q material (e.g., in 11q- tumors) is a hallmark of high-risk neuroblastoma, correlating with aggressive disease, metastasis, and poorer prognosis; it occurs in ~25-40% of cases and influences risk stratification in clinical protocols.^[47] WAGR syndrome is a contiguous gene deletion disorder involving an interstitial 11p13 microdeletion (1-26.5 Mb) that encompasses WT1 and PAX6, leading to haploinsufficiency and increased tumor predisposition.^[48] This de novo deletion, occurring in most cases, disrupts multiple genes, resulting in Wilms tumor (nephroblastoma, ~70% risk without surveillance), aniridia (iris hypoplasia), genitourinary anomalies (e.g., hypospadias, cryptorchidism in ~50%), and intellectual disability (~50%).^[48] Additional features may include obesity or renal failure (38% by age 20); diagnostic criteria include the acronym features confirmed by chromosomal analysis or FISH, with mandatory tumor screening via renal ultrasound due to the multi-locus effects.^[48] Silver-Russell syndrome (SRS) type 1 involves maternal hypomethylation at the 11p15.5 imprinting control region 1 (ICR1, 35-67% of cases), leading to altered expression of growth-related imprinted genes like IGF2, or rarely maternal uniparental disomy 11.^[49] Maternal duplications of 11p15 or CDKN1C variants can also contribute in familial instances. Clinically, it features intrauterine growth restriction, postnatal growth failure (adult height ~3 SD below mean), relative macrocephaly, body asymmetry (>20% length discrepancy), triangular facies, and feeding difficulties.^[49] Diagnosis uses the Netchine-Harbison clinical scoring system (≥4/6 points, including macrocephaly and asymmetry), supported by methylation-specific testing at 11p15.5, emphasizing the epigenetic multi-gene dysregulation.^[49]

Cytogenetic Structure

Arm Organization and Centromere

Human chromosome 11 is a submetacentric chromosome characterized by a short arm (p arm) and a long arm (q arm) separated by the centromere, which forms the primary constriction. The p arm spans approximately 53 Mb, while the q arm is substantially longer at about 82 Mb, contributing to the overall chromosome length of roughly 135 Mb. The centromere is positioned at approximately 51-56 Mb from the p telomere, spanning the cytogenetic bands 11p11.2 to 11q11, dividing the chromosome into these unequal arms.^[1]^[50] The centromere itself consists of large arrays of alpha-satellite DNA repeats, which create a specialized chromatin structure essential for chromosome function. These tandemly repeated sequences, often spanning several megabases, facilitate the assembly of the kinetochore—a protein complex that attaches to spindle microtubules during cell division. This structure ensures accurate segregation of sister chromatids in mitosis and homologous chromosomes in meiosis, preventing genomic instability.^[51]^[52] Functionally, the p arm is enriched with subtelomeric regions containing gene families such as olfactory receptors, which are involved in sensory perception and exhibit high variability. In contrast, the q arm hosts a greater density of housekeeping genes that support fundamental cellular processes across tissues. The pericentromeric heterochromatin surrounding the centromere plays a key role in suppressing genetic recombination, thereby preserving the structural integrity of the chromosome during meiosis.^[2]^[53] Regarding stability, chromosome 11 demonstrates a relatively low incidence of whole-chromosome aneuploidy in constitutional genetic disorders compared to smaller chromosomes like 21 or 18. However, its pericentromeric region, rich in repetitive elements including alpha-satellite and segmental duplications, predisposes it to structural rearrangements such as translocations, which are frequently observed in cancers and certain syndromes.^[54]^[11]

Banding Patterns and Regions

Banding patterns of human chromosomes, including chromosome 11, are primarily visualized using G-banding, a technique that employs Giemsa staining to produce alternating light (G-light) and dark (G-dark) bands reflecting differences in chromatin condensation and base composition.^[55] These patterns are standardized by the International System for Human Cytogenomic Nomenclature (ISCN), which defines ideograms at various resolutions corresponding to the number of bands per haploid set (bphs), such as 400, 550, and 850 bphs for routine clinical analysis.^[56] At the 850 bphs resolution, chromosome 11 exhibits detailed sub-banding: the short (p) arm spans from 11p15.5 distally to 11p11.2 proximally, including subregions like 11p15.1–11p15.5, 11p14.1–11p14.3, 11p13.1–11p13.3, 11p12.1–11p12.3, and 11p11.12–11p11.22; the long (q) arm extends from 11q11 proximally to 11q25 distally, with sub-bands such as 11q11.1–11q11.2, 11q12.1–11q12.3, 11q13.1–11q13.5, 11q14.1–11q14.3, 11q21.1–11q21.3, 11q22.1–11q22.3, 11q23.1–11q23.3, 11q24.1–11q24.3, and 11q25.^[57] Certain regions on chromosome 11 are cytogenetically notable due to their association with genomic instability or functional significance. The 11p15 region, particularly 11p15.5, contains an imprinted gene cluster involved in growth regulation and is frequently altered in cancers, such as through loss of imprinting leading to tumor predisposition syndromes.^[9] Similarly, 11q13 harbors the MEN1 locus, a tumor suppressor gene linked to multiple endocrine neoplasia type 1, often identified through banding in affected kindreds.^[39] The 11q23 region serves as a translocation hotspot in acute leukemias, where rearrangements involving the KMT2A (MLL) gene disrupt normal hematopoiesis.^[58] These banding patterns are essential for cytogenetic mapping and detection of structural abnormalities, such as the terminal deletions encompassing 11q23qter observed in Jacobsen syndrome, which can be initially identified via G-banding at 550–850 bphs resolution.^[59] For higher precision, G-banding integrates with fluorescence in situ hybridization (FISH) to confirm specific breakpoints and array comparative genomic hybridization (array CGH) to resolve submicroscopic copy number variations undetectable by conventional banding alone.^[60] The development of ISCN standards for ideograms originated from early cytogenetic workshops in the 1970s–1980s, establishing consistent nomenclature for band identification across chromosomes.^[56] Updates in subsequent editions, particularly following the 2003–2006 human genome sequencing efforts, aligned cytogenetic bands with precise sequence coordinates, enabling correlation between traditional ideograms and molecular data for enhanced genomic annotation.^[61]

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- Caused by mutations in the Wilms tumor 1 gene (WT1, 607102.0001). ... Wilms tumor and is associated with deletion of chromosome 11p14.1-p13, where ...
[45]
Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf - NIH
Nov 2, 2002 · Hypomethylation of the imprinting control region 1 (ICR1) at 11p15.5 causes SRS in 35%-67% of individuals, and maternal uniparental disomy of ...
[46]
Small supernumerary marker chromosomes derived from human ...
In addition, the minimal pericentric region of chromosome 11 without triplo-sensitive genes was narrowed to positions 47.68 and 60.52 Mb (GRCh37). Furthermore, ...Missing: length
[47]
Complete genomic and epigenetic maps of human centromeres
Apr 1, 2022 · Human centromeres are located within large arrays of tandemly repeated DNA sequences known as alpha satellite (αSat), which often span millions ...<|separator|>
[48]
α satellite DNA variation and function of the human centromere - PMC
Satellite DNA, including α satellite DNA found at human centromeres, comprises up to 10% of the genome, but is difficult to study because its repetitive nature ...
[49]
Heterochromatic repeat clustering imposes a physical barrier on ...
Jun 2, 2022 · Mouse pericentromeric heterochromatin repeat clustering imposes a physical barrier that requires many layers of de-compaction to be accessed.
[50]
Factors That Affect the Formation of Chromosomal Translocations in ...
Oct 18, 2022 · Chromosomal translocations have been linked to aneuploidy, infertility, mental retardation, cancer and other diseases.
[51]
Chromosome Banding Pattern - an overview | ScienceDirect Topics
G-banding is the benchmark for the routine analysis of human chromosomes, producing a characteristic light-and-dark banding pattern along the chromosomes (Fig.
[52]
ISCN standard idiograms - PubMed
The report includes a chromosome band nomenclature, as well as standard idiograms, which are diagrammatic representations of a karyotype.Missing: 2006 | Show results with:2006
[53]
11 - Chromosome Explorer
Chromosome 11 : G-banding, diagram and R-banding - Claude Léonard, Jean-Loup Huret Chromosome 11 diagrams ISCN 2009 - Courtesy Nicole Chia
[54]
11q23 rearrangements (KMT2A) in leukaemia
Aug 1, 2003 · 11q23 rearrangements in treatment related leukaemias (5-10% of 11q23 cases) are found mainly following a treatment with anti-topoisomerase II, or an ...<|control11|><|separator|>
[55]
Entry - #147791 - JACOBSEN SYNDROME; JBS - (OMIM.ORG)
The Jacobsen syndrome is a clinically characteristic disorder due to deletion of the terminal band 11q23. This band is known to harbor a heritable folate- ...Missing: banding | Show results with:banding
[56]
Comparative Genomic Hybridization–Array Analysis Enhances the ...
The ability of array CGH to not only verify all abnormalities found by G-banding analysis but also to identify additional submicroscopic rearrangements was ...
[57]
Integration of the cytogenetic map with the draft human genome ...
Aug 6, 2025 · Chromosome ideograms. Pairs of ideograms are shown for chromosomes 2, 12 and 22. For each pair, the left ideogram is based on the size of the ...