ArticleAmerican journal of medical genetics. Part A2007
X-chromosome inactivation patterns in females with Prader-Willi syndrome.
Article in American journal of medical genetics. Part A, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Comparison of Body Composition, Basal Metabolic Rate and Metabolic Outcomes of Adults with Prader-Willi Syndrome and Age- and BMI-Matched Patients with Essential Obesity.Journal of clinical medicine · 2025Article
- Chromosomal Microarray Study in Prader-Willi Syndrome.International journal of molecular sciences · 2023Article
- Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Molecular genetics & genomic medicine · 2022Article
- A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.Frontiers in genetics · 2021Article
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
- Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.Current pediatric reviews · 2016Review
- X Chromosome Inactivation in Opioid Addicted Women.Basic and clinical neuroscience · 2015Article
- Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals.Journal of assisted reproduction and genetics · 2015Article
- Whole exome sequencing in females with autism implicates novel and candidate genes.International journal of molecular sciences · 2015Article
- A preliminary case study of androgen receptor gene polymorphism association with impulsivity in women with alcoholism.Advances in genomics and genetics · 2014Article
- X chromosome inactivation in women with alcoholism.Alcoholism, clinical and experimental research · 2012Article
- IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.European journal of medical genetics · 2012Article
- Is gestation in Prader-Willi syndrome affected by the genetic subtype?Journal of assisted reproduction and genetics · 2009Article
- Comparison of X-chromosome inactivation patterns in multiple tissues from human females.Journal of medical genetics · 2008Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by loss of paternally expressed genes from the 15q11-q13 region generally due to a paternally-derived deletion of the 15q11-q13 region or maternal disomy 15 (UPD). Maternal disomy 15 is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age and after fertilization with a normal sperm leading to trisomy 15, a lethal condition unless trisomy rescue occurs with loss of the paternal chromosome 15. To further characterize the pathogenesis of maternal disomy 15 process in PWS, the status of X-chromosome inactivation was calculated to determine whether non-random skewing of X-inactivation is present indicating a small pool of early embryonic cells. We studied X-chromosome inactivation in 25 females with PWS-UPD, 35 with PWS-deletion, and 50 controls (with similar means, medians, and age ranges) using the polymorphic androgen receptor (AR) gene assay. A significant positive correlation (r = 0.5, P = 0.01) was seen between X-chromosome inactivation and age for only the UPD group. Furthermore, a significantly increased level (P = 0.02) of extreme X-inactivation skewness (>90%) was detected in our PWS-UPD group (24%) compared to controls (4%). This observation could indicate that trisomy 15 occurred at conceptus with trisomy rescue in early pregnancy leading to extreme skewness in several PWS-UPD subjects. Extreme X-inactivation skewness may also lead to additional risks for X-linked recessive disorders in PWS females with UPD and extreme X-chromosome skewness.
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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.