ArticleJournal of medical genetics2012
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Article in Journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 57 citations in OpenAlex.
- Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.Frontiers in pediatrics · 2025Article
- An unstable variant of GAP43 leads to neurodevelopmental deficiency.Scientific reports · 2024Article
- Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.Molecular syndromology · 2024Article
- Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.Journal of pediatric genetics · 2024Article
- Replication stress in mammalian embryo development, differentiation, and reprogramming.Trends in cell biology · 2023Review
- Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.Genes · 2023Article
- Article
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- Unique skeletal manifestations in patients with Primrose syndrome.European journal of medical genetics · 2020Article
- A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Molecular syndromology · 2018Review
- Identification of novel genomic imbalances in Saudi patients with congenital heart disease.Molecular cytogenetics · 2018Article
- Lessons learned from additional research analyses of unsolved clinical exome cases.Genome medicine · 2017Article
- Overexpression of Homer1a in the basal and lateral amygdala impairs fear conditioning and induces an autism-like social impairment.Molecular autism · 2016Article
- PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.European journal of human genetics : EJHG · 2015Article
- Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.Human mutation · 2015Article
- Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.Journal of visualized experiments : JoVE · 2015Article
- Mutations in ZBTB20 cause Primrose syndrome.Nature genetics · 2014Article
- Article
- Adult expression of a 3q13.31 microdeletion.Molecular cytogenetics · 2014Article
- The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Pediatric nephrology (Berlin, Germany) · 2014Article
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Authors and funding
35 authors at 20 institutions in 9 countries.
Funding
Abstract
backgroundCongenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.
methodsClinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included.
resultsThe molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20.
conclusionA newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.
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