ArticleAmerican journal of medical genetics. Part A2009
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- ZAP70: A Key Gene Identified by Differential Expression Analysis for Early Diagnosis of Fetuses with Emanuel Syndrome.Biochemical genetics · 2025Article
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.Case reports in genetics · 2025Article
- Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Review
- Young Adult Case of Fontan-associated Liver Disease with Hepatocellular Carcinoma During the Transition from Pediatric to Internal Medicine Care and Follow-up.Juntendo Iji zasshi = Juntendo medical journal · 2023Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.Scientific reports · 2022Article
- Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.Journal of clinical immunology · 2022Article
- Article
- Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-Case Report.Molecular cytogenetics · 2022Article
- Review
- Palindromes in DNA-A Risk for Genome Stability and Implications in Cancer.International journal of molecular sciences · 2021Review
- Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.Human molecular genetics · 2021Article
- Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Non-invasive prenatal screening for Emanuel syndrome.Molecular cytogenetics · 2020Article
- Neuroimaging findings in Emanuel Syndrome.Journal of radiology case reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioral issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.