ReviewAmerican journal of medical genetics1999
Phenotype of adults with the 22q11 deletion syndrome: A review.
Review in American journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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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.
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Who cites it
41 citing papers in PubMed, 139 citations in OpenAlex.
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.Cell stem cell · 2024Article
- MicroRNAs in maxillofacial bone modeling and remodeling: implications for malocclusion development and orthodontic treatment.Frontiers in cell and developmental biology · 2024Review
- Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.Schizophrenia bulletin · 2022Article
- DiGeorge syndrome: consider the diagnosis.BMJ case reports · 2022Article
- Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult.European journal of case reports in internal medicine · 2021Article
- Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.Head & face medicine · 2019Article
- Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion.Molecular genetics & genomic medicine · 2018Article
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.American journal of medical genetics. Part A · 2018Article
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.BMC genomics · 2018Article
- Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.Medicine · 2018Review
- DiGeorge Syndrome Associated with Azoospermia: First case in the literature.Turkish journal of urology · 2017Article
- An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.Internal medicine (Tokyo, Japan) · 2017Article
- A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.European journal of human genetics : EJHG · 2016Article
- Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis.Disease models & mechanisms · 2016Article
- Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.Case reports in obstetrics and gynecology · 2016Article
- Parental expression is overvalued in the interpretation of rare inherited variants.European journal of human genetics : EJHG · 2015Article
- The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.Case reports in obstetrics and gynecology · 2015Article
- Self-reported speech problems in adolescents and young adults with 22q11.2 deletion syndrome: a cross-sectional cohort study.Archives of plastic surgery · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age >/=18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22qDS (497 children and 61 adults) [Ryan et al., 1997: J. Med. Genet. 34:798-804]. Fifty-five studies reported on 126 adults (83 women, 40 men, 3 unknown sex), mean age 29.6 years (SD = 8.7 years). Compared with the European survey, adults with 22qDS reviewed had a lower rate of CHD, 30% versus 75%; chi(2) = 88.65, df = 1, P < 0.0001, but higher rates of identified palate anomalies, 88% versus 15%; chi(2) = 37.45, df = 1, P < 0.0001, and learning difficulties, 94% versus 79%; chi(2) = 12.13, df = 1, P = < 0.0008. The most common finding reported was minor facial anomalies. Few reports provided details of minor physical anomalies. Psychiatric conditions were more prevalent, 36% versus 18%; chi(2)= 5.71, df = 1, P < 0.02, than in the survey: 60% of reviewed adults were transmitting parents (72% mothers) ascertained following diagnosis of affected offspring. They had lower rates of CHD, cleft palate, and psychiatric disorders but similar rates of learning disabilities, and other palate and facial anomalies compared with adults ascertained by other methods. The results suggest that learning disabilities and facial and palate anomalies may be key findings in 22qDS adults, but that ascertainment is a key factor in the observed phenotype. Comprehensive studies of adults with 22qDS identified independently of familial transmission are necessary to further delineate the phenotype of adults and to determine the natural history of the syndrome.
Indexed as
Identifiers
10494092PMC3276590W2130054388What 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.