ArticleJournal of medical genetics1993
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 citations in OpenAlex.
- Pooled it
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction.Scientific reports · 2023Article
- Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.Journal of autism and developmental disorders · 2022Article
- Influence of Gestational Chlorpyrifos Exposure on ASD-like Behaviors in an fmr1-KO Rat Model.Molecular neurobiology · 2022Article
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.Frontiers in psychiatry · 2021Review
- Intellectual disability and autism spectrum disorders 'on the fly': insights fromDisease models & mechanisms · 2019Review
- Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.International journal of molecular sciences · 2019Article
- Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.Human molecular genetics · 2018Article
- Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature.International journal of pediatrics · 2017Article
- The neurobiology of the Prader-Willi phenotype of fragile X syndrome.Intractable & rare diseases research · 2016Review
- Single Gene and Syndromic Causes of Obesity: Illustrative Examples.Progress in molecular biology and translational science · 2016Review
- Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice.Brain research · 2015Article
- The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.Human molecular genetics · 2015Article
- From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment.Frontiers in psychiatry · 2015Review
- Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.Genes, brain, and behavior · 2012Article
- Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.Journal of neurodevelopmental disorders · 2011Article
- FMR1 premutation and full mutation molecular mechanisms related to autism.Journal of neurodevelopmental disorders · 2011Article
- Fragile x syndrome.Current genomics · 2011Article
Corrections and comments
- Commented on by
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotonia with feeding problems during infancy followed by hyperphagia from toddlerhood. We describe five new fragile X patients and present a clinical update of three previously described patients with the PW-like phenotype. In one family, segregation of either the classical Martin-Bell or the PW-like phenotype was observed and in another family there was repeated transmission of the PW-like phenotype. Previously, one of the patients had been misdiagnosed as having classical PWS, based on clinical findings. Molecular studies of the FMR-1 gene showed the typical full mutations as seen in fragile X syndrome males. Molecular analysis of the 15q11-13 region, which is deleted in the majority of classical PWS patients, did not show any detectable abnormalities. In a group of 26 patients with suspected Prader-Willi syndrome but without detectable molecular abnormalities of chromosome 15, one fragile X patient was found. These clinical and molecular findings illustrate the necessity to perform DNA analysis of the FMR-1 gene in mentally retarded patients presenting with a PW phenotype but without the PWS specific cytogenetic/molecular abnormalities of chromosome 15.
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.