ArticleEuropean journal of human genetics : EJHG2011
The phenotype of recurrent 10q22q23 deletions and duplications.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 64 citations in OpenAlex.
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- Augmentation of bone morphogenetic protein signaling in cranial neural crest cells in mice deforms skull base due to premature fusion of intersphenoidal synchondrosis.Genesis (New York, N.Y. : 2000) · 2023Article
- BMP signaling during craniofacial development: new insights into pathological mechanisms leading to craniofacial anomalies.Frontiers in physiology · 2023Review
- Co-Occurrence of a PathogenicGenes · 2022Article
- A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.Molecular syndromology · 2022Article
- A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.Genes · 2021Article
- Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.Children (Basel, Switzerland) · 2021Article
- Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.Balkan journal of medical genetics : BJMG · 2020Article
- Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report.BMC medical genomics · 2018Article
- Toward the Language Oscillogenome.Frontiers in psychology · 2018Article
- Copy Number Variation Disorders.Current genetic medicine reports · 2017Article
- A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.Molecular syndromology · 2017Article
- Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.Disease models & mechanisms · 2017Article
- Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Human genetics · 2016Article
- Aortic dilation, genetic testing, and associated diagnoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.Human genome variation · 2016Article
- Refining analyses of copy number variation identifies specific genes associated with developmental delay.Nature genetics · 2014Article
- High rate of disease-related copy number variations in childhood onset schizophrenia.Molecular psychiatry · 2014Article
- Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.American journal of medical genetics. Part A · 2014Article
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Authors and funding
32 authors at 15 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have unique breakpoints. Most of the individuals with the LCR3-4 deletion had developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia were observed. For congenital breast aplasia, the NRG3 gene, known to be involved in early mammary gland development in mice, is a putative candidate gene. For cardiac defects, BMPR1A and GRID1 are putative candidate genes because of their association with cardiac structure and function. Duplications between LCRs3 and 4 are associated with variable phenotypic penetrance. Probands had speech and/or motor delays and dysmorphisms including a broad forehead, deep-set eyes, upslanting palpebral fissures, a smooth philtrum and a thin upper lip. In conclusion, duplications between LCRs3 and 4 on 10q22.3q23.2 may lead to a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members of a proband. Reciprocal deletions lead to speech and language delay, mild facial dysmorphisms and, in some individuals, to cerebellar, breast developmental and cardiac defects.
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