ArticleAmerican journal of medical genetics. Part A2023
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed.
- Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.Movement disorders clinical practice · 2026Article
- An enhanced transformer model for detecting 1p36 deletion syndrome.Molecular genetics and genomics : MGG · 2026Article
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- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Article
- Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.BMC medical genomics · 2025Review
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- Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Article
- A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis.Scientific reports · 2025Article
- Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.Molecular genetics & genomic medicine · 2025Article
- Kölliker's Organ Functions as a Developmental Hub in Mouse Cochlea Regulating Spiral Limbus and Tectorial Membrane Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.medRxiv : the preprint server for health sciences · 2025Article
- Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease.Frontiers in pediatrics · 2025Article
- Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome.JCEM case reports · 2024Article
- Early-onset pharyngeal airway collapse in infants: a retrospective single-center study.BMC pediatrics · 2023Article
- Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.BMC medical genomics · 2023Article
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.American journal of medical genetics. Part A · 2023Article
- Article
- Breaking new ground: ExploringInternational journal of health sciencesArticle
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48 authors.
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Abstract
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.
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