10q22.3q23.3 Microduplication Syndrome: Disease-Characteristics Report

Executive summary and evidence limits

10q22.3q23.3 microduplication syndrome is an exceptionally rare, variably expressed chromosomal copy-number disorder caused by an interstitial gain of material on chromosome 10q. The best-supported recurrent form is an approximately 7.2–7.4-Mb duplication between low-copy repeats LCR3 and LCR4, usually described as 10q22.3q23.2; somewhat larger, nonrecurrent duplications may extend into q23.3. The most reproducible manifestations are developmental—especially speech/language delay—mild-to-moderate intellectual or learning impairment, behavioral/social difficulties, and variable facial dysmorphism. Congenital heart disease and microcephaly have been reported in individual larger-duplication cases, but their frequencies and causal relationship remain uncertain. Both de novo and inherited events occur, including transmission from apparently healthy relatives, indicating variable expressivity and probable incomplete penetrance. (bon2011thephenotypeof pages 4-5, siggberg2010arraycghin pages 8-9, bon2011thephenotypeof pages 1-2)

The evidence base is extremely small. The principal syndrome-defining study is van Bon et al., published online 19 January 2011 and in print April 2011, DOI: https://doi.org/10.1038/ejhg.2010.211. It studied 14 people with 10q22q23 rearrangements, including six duplications, only three of which were recurrent LCR3–LCR4 events. Siggberg et al., published June 2010, reported a 7.21-Mb duplication in an array-CGH cohort; DOI: https://doi.org/10.1002/ajmg.a.33402. No syndrome-specific primary publication from 2023–2024 was retrieved, and no controlled natural-history study, registry, guideline, or treatment trial was identified. Therefore, percentages below are case-series counts—not population estimates. (bon2011thephenotypeof pages 1-2, siggberg2010arraycghin pages 4-5)

Table: Compact evidence map for 10q22.3q23.3 microduplication syndrome, separating supported duplication findings from rare associations and unsupported domains. Ontology identifiers are included only where sufficiently established.

1. Disease information

Definition

This is a constitutional chromosomal microduplication disorder, not a single-gene disease. It encompasses overlapping but nonidentical duplications of 10q22.3–q23.2/q23.3. The recurrent rearrangement is bounded by LCR3 and LCR4; duplications with unique breakpoints or substantially different extents should be recorded separately because their gene content and pathogenicity can differ. Small inherited duplications within the region have sometimes been judged likely benign, emphasizing that “10q22.3q23.3 duplication” is not by itself a sufficient pathogenic classification. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 2-3)

Names and identifiers

Common names include:

• 10q22.3q23.3 microduplication syndrome;
• 10q22q23 duplication syndrome;
• 10q22.3–q23.2 duplication;
• recurrent LCR3–LCR4 10q duplication;
• partial trisomy 10q22–q23.

A distinct, confidently verified disease-specific OMIM, Orphanet, MeSH, MONDO, ICD-10, or ICD-11 identifier was not established from the retrieved primary literature. For knowledge-base curation, the record should therefore use a chromosomal-duplication parent concept and preserve the exact ISCN/genomic coordinates. Broad clinical coding may use “other specified chromosome abnormality,” but such codes are not syndrome-specific. The evidence is aggregated from published clinical case series and diagnostic cohorts, not longitudinal EHR-derived population data. (bon2011thephenotypeof pages 1-2, siggberg2010arraycghin pages 4-5)

2. Etiology, risk, and protective factors

The initiating lesion is a usually germline interstitial duplication of chromosome 10. Recurrent events are most plausibly generated by non-allelic homologous recombination (NAHR) between LCR3 and LCR4 during meiosis. Unique-breakpoint events can arise through other structural-variant mechanisms. Both de novo and inherited duplications have been documented. (bon2011thephenotypeof pages 2-3, siggberg2010arraycghin pages 9-10, bon2011thephenotypeof pages 4-5)

The causal “risk factor” is carriage of the duplication. If a parent carries it, each pregnancy has a theoretical 50% transmission probability, but phenotype and severity cannot be predicted because penetrance and expressivity are variable. For a confirmed de novo event, recurrence is expected to be low but not zero because parental germline mosaicism cannot be excluded. Balanced parental rearrangements should be considered when the child’s architecture is atypical.

No environmental, infectious, toxic, occupational, lifestyle, sex-specific, founder, consanguinity-related, or ancestry-specific risk factor has been established. No genetic or environmental protective factor, modifier allele, or gene–environment interaction has been demonstrated. Apparently unaffected carriers are evidence of incomplete penetrance, not of a known protective exposure. (bon2011thephenotypeof pages 1-2)

3. Phenotypes

Neurodevelopment and behavior

In one three-case duplication table, developmental delay was present in 3/3, speech delay in 2/3, and impaired social interaction in 2/3. Another 7.21-Mb case had intellectual disability and dysmorphic features. Reported severity is generally mild to moderate but variable; formal IQ, adaptive-function, and longitudinal trajectory data are insufficient. Additional CNVs in some individuals complicate attribution. Suggested HPO annotations are Global developmental delay (HP:0001263), Neurodevelopmental delay (HP:0012758), Intellectual disability (HP:0001249), Motor delay (HP:0001270), and Delayed speech and language development (HP:0000750). (bon2011thephenotypeof pages 4-5, siggberg2010arraycghin pages 8-9)

Impaired social interaction and behavioral problems are reported. Autism, hyperactivity, and aggression occurred in the broader 10q22q23 cohort, but the available text mixes deletion and duplication probands; these must not be assigned universal duplication frequencies. Appropriate case-level terms include Autistic behavior (HP:0000729), Hyperactivity (HP:0000752), and Aggressive behavior (HP:0000718) only when clinically documented. (bon2011thephenotypeof pages 5-7)

Craniofacial, ocular, dental, and ear findings

Variable findings include broad forehead, triangular face, deep-set eyes, upslanting palpebral fissures, laterally flared eyebrows, smooth philtrum, thin upper lip, full lower lip or cheeks, anteverted nares, micrognathia, hypotelorism, prominent or low-set ears, and large widely spaced teeth. Siblings with the same duplication shared upslanting palpebral fissures, strabismus, hypotelorism, smooth philtrum, and anteverted nares, supporting—but not proving—a recognizable facial pattern. None is obligatory or diagnostic. Suggested terms include Broad forehead (HP:0000337), Deeply set eye (HP:0000490), Upslanted palpebral fissure (HP:0000582), Smooth philtrum (HP:0000319), Thin upper-lip vermilion (HP:0000219), Micrognathia (HP:0000347), Anteverted nares (HP:0000463), Strabismus (HP:0000486), and Hypotelorism (HP:0000601). (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 5-7)

Recurrent infant ear infections were observed in some cases; use Recurrent otitis media as a phenotype term where documented. A vision problem in one intragenic NRG3 duplication case was considered more likely related to prematurity and should not be treated as definitive syndrome evidence. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 5-7)

Growth and congenital anomalies

Head size and growth are variable. A separate 18.6-Mb de novo duplication was associated with microcephaly and congenital heart disease, while tetralogy of Fallot was reported with an intragenic NRG3 duplication. These are single-case associations, not established core features. Suggested terms are Microcephaly (HP:0000252), Abnormal heart morphology (HP:0001627), and Tetralogy of Fallot (HP:0001636) when present. Seizures were not reported in the summarized recurrent-duplication table. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 5-7, siggberg2010arraycghin pages 8-9)

Quality of life

No EQ-5D, SF-36, PROMIS, or disease-specific quality-of-life data exist. Likely burdens arise from communication difficulty, learning support needs, social/behavioral challenges, and therapies or procedures required for congenital anomalies. These are clinical inferences rather than measured syndrome-specific outcomes.

4. Genetic and molecular information

The defining variant is a germline structural copy-number gain, generally present in three copies. In hg18-era reports, recurrent duplications were approximately 81.6–89.0 Mb; another duplication was 79.4–86.6 Mb, and smaller unique duplications included approximately 84.2–85.0 Mb and 84.5–84.8 Mb. Coordinates must never be transferred between genome builds without liftover, and exact breakpoints may remain uncertain when they lie inside repetitive LCRs. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 2-3)

A Finnish patient carried a 7.21-Mb dup(10)(q22.3q23.2). Because its breakpoints did not disrupt a known gene, the authors proposed a regional dosage effect. In contemporary ACMG/ClinGen practice, classification must be performed for the individual CNV using size, gene content, dosage evidence, inheritance, phenotype specificity, population databases, and any additional variants; it cannot be inferred solely from the cytoband label. Population allele frequency is not meaningfully expressible as a single SNV-like frequency for these heterogeneous CNVs. (siggberg2010arraycghin pages 8-9)

Genes frequently discussed within overlapping intervals include BMPR1A, NRG3, GRID1, PTEN, and WAPL, but no single gene has been proven to account for the duplication phenotype. BMPR1A and GRID1 have been proposed in cardiac development and NRG3 in developmental phenotypes, but much of this discussion derives from deletion cases. Loss of PTEN and BMPR1A causes recognizable deletion/contiguous-gene phenotypes; those loss-of-function effects must not be extrapolated to increased dosage. No validated modifier genes, syndrome-specific methylation signature, or other epigenetic mechanism has been demonstrated. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 5-7, siggberg2010arraycghin pages 8-9)

5. Environmental information

No toxin, radiation exposure, pollution, diet, exercise pattern, alcohol, smoking, medication, infection, or maternal illness is known to cause or modify this constitutional duplication syndrome. Infectious agents and public-health exposure control are not applicable to etiology. Routine healthy lifestyle and immunization advice remains appropriate for general health but does not prevent the chromosomal lesion.

6. Mechanism and pathophysiology

Ordered causal chain

1. Misalignment of homologous LCR3/LCR4 sequences during meiosis leads to NAHR and formation of a recurrent 10q22.3–q23.2 duplication; unique-breakpoint events arise by other, less-defined structural mechanisms. (bon2011thephenotypeof pages 2-3, siggberg2010arraycghin pages 9-10)
2. The duplication leads to three-copy dosage of multiple interval genes and may alter local chromatin organization; the specific dosage-critical gene or genes remain inferred rather than demonstrated. (siggberg2010arraycghin pages 8-9)
3. Altered dosage is inferred to perturb developmental gene-expression networks in neural and craniofacial lineages, leading to developmental, speech/language, behavioral, and dysmorphic phenotypes. No duplication-specific transcriptomic or proteomic demonstration is available. (bon2011thephenotypeof pages 1-2)
4. A possible branch in cardiac developmental tissues may lead to congenital heart defects, but this is supported only by isolated larger or intragenic duplication cases and is not proven to involve BMPR1A, GRID1, or NRG3. (bon2011thephenotypeof pages 5-7, siggberg2010arraycghin pages 8-9)
5. Variable breakpoint content, background genetic variation, additional CNVs, and incompletely defined modifiers result in variable expressivity and incomplete penetrance, including apparently unaffected carriers. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 4-5)

Candidate pathway annotations should remain hypothesis-level: BMP/TGF-β receptor signaling for BMPR1A, PI3K–AKT regulation for PTEN, neuregulin signaling for NRG3, glutamatergic signaling for GRID1, and cohesin/chromosome organization for WAPL. Suggested broad GO processes are DNA recombination (GO:0006310), nervous-system development (GO:0007399), heart development (GO:0007507), and regulation of DNA-templated transcription. Relevant inferred cell classes include neural progenitor cells, neurons, neural-crest-derived craniofacial cells, and cardiomyocyte/cardiac progenitor lineages; no syndrome-specific Cell Ontology assignment has been experimentally validated.

No duplication-specific apoptosis, autophagy, metabolic, immune, inflammatory, tissue-injury, biochemical, transcriptomic, proteomic, metabolomic, lipidomic, single-cell, spatial-transcriptomic, multi-omic, CRISPR-screen, or RNAi-screen result was identified. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 5-7)

7. Anatomical structures affected

The best-supported system is the nervous system, reflected by developmental, cognitive, language, and behavioral manifestations. Craniofacial structures, eyes, ears, and dentition are variably affected. The cardiovascular system is a possible secondary domain in selected cases. Suggested anatomy concepts include brain (UBERON:0000955), head (UBERON:0000033), eye (UBERON:0000970), ear (UBERON:0001690), and heart (UBERON:0000948). No consistent lateralization is reported. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 5-7, siggberg2010arraycghin pages 8-9)

At tissue/cell and subcellular levels, direct pathology has not been established. Nuclear/chromosomal organization is relevant to formation of the structural variant, but no disease-specific histopathology, organ biopsy phenotype, or cellular compartment abnormality has been demonstrated.

8. Temporal development

The duplication is present from conception. Congenital dysmorphism or structural malformations may be recognizable prenatally or neonatally, whereas developmental, language, learning, and behavioral manifestations generally become evident during infancy or childhood. The disorder is lifelong, but evidence does not support formal stages, a degenerative course, episodic relapses, or remission. Developmental skills may improve with maturation and intervention, although persistent support needs can remain. No longitudinal progression rate or critical-window study exists. Early childhood is nevertheless the practical window for developmental surveillance and early intervention. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 1-2)

9. Inheritance and population

Both de novo and autosomally transmitted duplications occur. Reported events include maternal and paternal inheritance; apparently healthy relatives and paternally inherited small duplications demonstrate incomplete penetrance and variable expressivity. The recurrent lesion is not appropriately described as a classic autosomal-dominant Mendelian disorder with known penetrance. No anticipation, founder effect, consanguinity association, sex bias, ethnic enrichment, or geographic clustering has been demonstrated. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 1-2)

Prevalence, incidence, carrier frequency, sex ratio, and age distribution are unknown. The few published cases cannot support cases-per-100,000 estimates. Ascertainment through developmental-disability cohorts also produces substantial selection bias. In one Finnish cohort of 150 patients with intellectual disability/dysmorphism or malformations and normal karyotypes, genome-wide array CGH found reportable abnormalities in 28 index patients (18.6% overall yield), but only one relevant 10q duplication was described; this is not a syndrome-prevalence estimate. (siggberg2010arraycghin pages 4-5)

10. Diagnostics

Recommended genetic approach

1. Chromosomal microarray (CMA)—SNP array or array CGH—is the first-line test for an individual with unexplained developmental delay, intellectual disability, dysmorphism, or multiple congenital anomalies. It establishes copy number, approximate interval, and mosaicism when above platform thresholds. (bon2011thephenotypeof pages 2-3, siggberg2010arraycghin pages 4-5)
2. Report the finding using ISCN plus genome-build-specific coordinates, total size, copy state, and complete gene content.
3. Perform parental CMA or targeted testing to determine whether the event is de novo or inherited. Clinical evaluation of a carrier parent is important because subtle learning or behavioral phenotypes may be missed.
4. Use FISH, MLPA, or quantitative PCR for selected confirmation or family studies. FISH can characterize location/orientation or exclude insertion/translocation, but may miss small abnormalities; the cited diagnostic study noted limitations below roughly 200 kb. (siggberg2010arraycghin pages 6-7)
5. Genome sequencing may refine breakpoints, orientation, insertion site, mosaicism, and accompanying structural variants. WES can sometimes infer exon-level CNVs but is less reliable for LCR-mediated structure and should not replace CMA/WGS when a chromosomal disorder is suspected.
6. If the phenotype is substantially more severe or discordant than expected, perform exome/genome analysis to look for a second diagnosis or additional CNV; several published cases had potentially confounding abnormalities. (bon2011thephenotypeof pages 4-5, bon2011thephenotypeof pages 5-7)

Karyotyping can detect larger duplications or balanced rearrangements but may miss a 7-Mb or smaller event depending on resolution. Single-gene testing, mitochondrial DNA testing, repeat-expansion testing, liquid biopsy, metabolomics, and epigenomic testing are not diagnostic for this syndrome.

Clinical evaluation and differential diagnosis

After molecular confirmation, assess development, speech/language, adaptive behavior, hearing, vision, growth/head circumference, and dysmorphology. Cardiac examination and echocardiography are reasonable if a murmur, prenatal anomaly, cyanosis, or larger duplication is present; evidence is insufficient to mandate repeated echocardiography in every asymptomatic carrier.

Differential diagnoses include 10q22q23 deletion syndrome, PTEN hamartoma-tumor syndrome, BMPR1A-related juvenile polyposis, other pathogenic CNVs causing developmental delay, and monogenic neurodevelopmental syndromes. Gastrointestinal polyposis and cancer susceptibility associated with PTEN/BMPR1A loss should not automatically be assigned to duplication carriers. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 5-7)

There are no standardized syndrome-specific clinical criteria, biochemical biomarkers, newborn-screening program, or population carrier-screening recommendation.

11. Outcome and prognosis

No survival curves, mortality rates, life-expectancy estimates, hospitalization rates, disability-adjusted life years, or validated prognostic biomarkers are available. Available cases do not establish a progressive lethal disorder; prognosis is instead expected to depend on the degree of neurodevelopmental disability, behavioral needs, congenital malformations, additional genomic findings, and access to intervention. The recovery potential for congenital intellectual disability is limited, but functional communication, motor skills, and participation may improve with appropriate support.

No evidence establishes increased cancer risk from duplication alone. Applying cancer surveillance designed for PTEN or BMPR1A loss-of-function syndromes solely because those genes are duplicated would be unsupported. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 5-7)

12. Treatment

There is no disease-modifying pharmacotherapy, approved targeted treatment, gene therapy, genome editing, RNA therapy, cell therapy, immunotherapy, or validated pharmacogenomic rule. No syndrome-specific interventional clinical trial or NCT identifier was found. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 4-5)

Management is individualized:

• early-intervention services and developmental pediatrics;
• speech and language therapy (NCIT: Speech Therapy);
• physical therapy and occupational therapy for motor/adaptive deficits;
• individualized educational planning;
• behavioral or autism-focused intervention where indicated;
• audiology and treatment of recurrent otitis media;
• ophthalmology/strabismus management;
• standard cardiology and surgical care for congenital heart defects;
• symptom-based psychopharmacology only for a diagnosed comorbidity, using ordinary pediatric/psychiatric standards.

No response rates or syndrome-specific adverse-event profile have been published. “Precision medicine” currently means precise breakpoint/gene-content interpretation and phenotype-directed care, not a gene-dosage-targeted drug.

13. Prevention

The chromosomal event generally cannot be prevented by lifestyle or vaccination. Primary prevention is limited to informed reproductive choices after genetic counseling. Secondary prevention consists of early molecular diagnosis, developmental screening, hearing/vision assessment, and timely treatment of congenital anomalies. Tertiary prevention includes therapies, educational support, behavioral care, and management of complications.

For an affected family, counseling should include parental testing, recurrence-risk interpretation, prenatal diagnosis by chorionic-villus sampling or amniocentesis with CMA, and—when a familial pathogenic/likely pathogenic duplication is established—preimplantation genetic testing for structural rearrangements. Noninvasive prenatal screening may suggest a large CNV but is not diagnostic. Variable penetrance means prenatal detection cannot reliably predict severity. Cascade testing is reasonable for relatives when results will alter reproductive counseling or clinical evaluation. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 4-5)

14. Other species and natural disease

No naturally occurring homologous whole-region microduplication syndrome was identified in companion animals, livestock, or wildlife. There is no zoonotic potential or cross-species transmission because this is a constitutional genomic disorder. Orthologs of interval genes occur in common vertebrate models, but gene-level orthology does not establish an animal counterpart of the human CNV. No relevant breed or VBO term is supported.

15. Model organisms

No validated mouse, rat, zebrafish, Drosophila, C. elegans, organoid, iPSC, or cell-line model reproducing the complete human 10q22.3q23.3 duplication was identified. Individual interval genes have conventional knockout or transgenic models, but loss-of-function models—particularly for Pten or Bmpr1a—do not model three-copy human dosage and cannot establish the duplication mechanism. The best future models would be engineered syntenic duplications or patient-derived iPSC neural and cardiac differentiation systems, followed by allele/dosage-rescue experiments. These are research recommendations, not current validated resources. (bon2011thephenotypeof pages 1-2, bon2011thephenotypeof pages 5-7)

Key primary sources and exact supporting language

• van Bon et al., “The phenotype of recurrent 10q22q23 deletions and duplications,” European Journal of Human Genetics 19:400–408, online 19 January 2011/print April 2011, DOI: https://doi.org/10.1038/ejhg.2010.211. The reported evidence can be summarized by the article’s language that duplication findings included “variable speech and/or motor delay” and the facial pattern “broad forehead, deep-set eyes, upslanting palpebral fissures, smooth philtrum, and thin upper lip.” The study also observed duplications in healthy relatives, supporting incomplete/variable penetrance. (bon2011thephenotypeof pages 1-2)
• Siggberg et al., “Array CGH in molecular diagnosis of mental retardation—a study of 150 Finnish patients,” American Journal of Medical Genetics Part A 152A:1398–1410, June 2010, DOI: https://doi.org/10.1002/ajmg.a.33402. It reported a paternally inherited 7.21-Mb dup(10)(q22.3q23.2) in a child with intellectual disability and dysmorphism and proposed a regional dosage effect because the breakpoints did not disrupt known genes. (siggberg2010arraycghin pages 8-9)

PMIDs were not present in the retrieved full-text evidence and are therefore not supplied rather than risk misidentification. The literature search found no adequate 2023–2024 syndrome-specific update; consequently, the current disease definition still rests primarily on these small 2010–2011 human clinical datasets. All mechanistic statements beyond LCR-mediated rearrangement should be curated as inferred/hypothesis-level, and all frequencies should retain their original tiny denominators.

References

1. (bon2011thephenotypeof pages 4-5): Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, and Bert B A de Vries. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics, 19:400-408, Apr 2011. URL: https://doi.org/10.1038/ejhg.2010.211, doi:10.1038/ejhg.2010.211. This article has 87 citations and is from a domain leading peer-reviewed journal.

2. (siggberg2010arraycghin pages 8-9): Linda Siggberg, Sirpa Ala‐Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius, and Sakari Knuutila. Array cgh in molecular diagnosis of mental retardation—a study of 150 finnish patients. American Journal of Medical Genetics Part A, 152A:1398-1410, Jun 2010. URL: https://doi.org/10.1002/ajmg.a.33402, doi:10.1002/ajmg.a.33402. This article has 59 citations.

3. (bon2011thephenotypeof pages 1-2): Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, and Bert B A de Vries. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics, 19:400-408, Apr 2011. URL: https://doi.org/10.1038/ejhg.2010.211, doi:10.1038/ejhg.2010.211. This article has 87 citations and is from a domain leading peer-reviewed journal.

4. (siggberg2010arraycghin pages 4-5): Linda Siggberg, Sirpa Ala‐Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius, and Sakari Knuutila. Array cgh in molecular diagnosis of mental retardation—a study of 150 finnish patients. American Journal of Medical Genetics Part A, 152A:1398-1410, Jun 2010. URL: https://doi.org/10.1002/ajmg.a.33402, doi:10.1002/ajmg.a.33402. This article has 59 citations.

5. (bon2011thephenotypeof pages 2-3): Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, and Bert B A de Vries. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics, 19:400-408, Apr 2011. URL: https://doi.org/10.1038/ejhg.2010.211, doi:10.1038/ejhg.2010.211. This article has 87 citations and is from a domain leading peer-reviewed journal.

6. (siggberg2010arraycghin pages 9-10): Linda Siggberg, Sirpa Ala‐Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius, and Sakari Knuutila. Array cgh in molecular diagnosis of mental retardation—a study of 150 finnish patients. American Journal of Medical Genetics Part A, 152A:1398-1410, Jun 2010. URL: https://doi.org/10.1002/ajmg.a.33402, doi:10.1002/ajmg.a.33402. This article has 59 citations.

7. (bon2011thephenotypeof pages 5-7): Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, and Bert B A de Vries. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics, 19:400-408, Apr 2011. URL: https://doi.org/10.1038/ejhg.2010.211, doi:10.1038/ejhg.2010.211. This article has 87 citations and is from a domain leading peer-reviewed journal.

8. (siggberg2010arraycghin pages 6-7): Linda Siggberg, Sirpa Ala‐Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius, and Sakari Knuutila. Array cgh in molecular diagnosis of mental retardation—a study of 150 finnish patients. American Journal of Medical Genetics Part A, 152A:1398-1410, Jun 2010. URL: https://doi.org/10.1002/ajmg.a.33402, doi:10.1002/ajmg.a.33402. This article has 59 citations.

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Reference Validation

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All extracted references resolved successfully.

Term Validation

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Terms whose name is worth a second look

The report's name for these is recognisably related to the term's own name without being one of them. A loose paraphrase reads the same way as a citation of the wrong sibling term - and so does a related synonym, which the ontology records precisely because it names something adjacent rather than the same thing - so these are listed rather than judged:

• HP:0003829 (1 mention) - the report calls it "Incomplete penetrance"; HP calls it Typified by incomplete penetrance, and lists "Incomplete penetrance" among its other names

Every term resolved, and every label the report gave matched.