This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. PubMed is a searchable database of medical literature and lists journal articles that discuss 48,XXYY syndrome. Click on the link to view a sample search on this topic.
Have a question? References References. Chen H. Klinefelter syndrome. Medscape Reference. Corsini C, Sarda P.
US National Library of Medicine. Genetics Home Reference. Do you know of a review article? Share this content:. Close Copy Link.
You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families. Tips for Finding Financial Aid. The most common symptoms and characteristics that would be noticeable by parents, teachers, medical professionals and other treatment providers are:. The cause of 48,XXYY is still not completely understood.
Since extensive studies have not been conducted on the cause of 48,XXYY, there is currently very little information about whether or not there are environmental , hereditary or other factors which can result in this chromosome pattern. There is no evidence that parents of one XXYY child are more likely to have other children with sex chromosomal variations. Sex chromosomal variations in general are actually quite common.
The occurrence of 48, XXYY is 1 in 17, live male births. Diagnosing 48,XXYY requires a genetic test called a karyotype. A karyotype is the only way to know for certain that a boy or man has 48,XXYY. Many boys and men with XXYY have similar facial features, plus several other physical features that are associated with the condition. Does your son or patient look like the boys and men in these photos? These are all different boys and men. We know that more genetic testing is being done on children with autism, but there may be adults out there who were never tested.
Diagnosis is confirmed with standard karyotype or chromosomal microarray. Antenatal diagnosis is possible by amniocentesis or chorionic villus sampling. A thorough physical exam, renal ultrasound and echocardiography should be performed to evaluate for congenital defects. Comorbidities, such as asthma and epilepsy, should be diagnosed and managed as they would be in individuals without 48,XXYY. Pubertal examinations and serum hormone profiles should be monitored beginning around age 10, and testosterone supplementation should be considered for hypogonadism.
Annual screening for hyperlipidemia, diabetes, and autoimmune thyroid disease is recommended starting in adolescence. Comprehensive, interdisciplinary neurodevelopmental and behavioral evaluation is warranted throughout childhood.
School- and community-based supports and services frequently form part of the treatment plan. While there is no cure, with appropriate treatment for associated medical and psychiatric conditions, life expectancy is typically normal. Health-related quality of life and degree of independence varies depending on the severity of symptoms and access to appropriate health care and support services.
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Hoang AQ Takahashi S. Threat memory devaluation by a dual-task intervention: Testing return of fear and intrusive memory over 48 hours.
Landkroon E Engelhard IM. Lethal, behavioral, growth and developmental toxicities of alkyl-PAHs and non-alkyl PAHs to early-life stage of brine shrimp, Artemia parthenogenetica.
Cong Y Wang J. Martin de Miguel I Effect of long noncoding RNAs on epithelial-mesenchymal transition in A cells and fibrotic human lungs. Yildirim M Tasci AE.
Survival analysis of a cohort of extremely preterm infants born in Finland during Harkin P Hallman M. Evaluation of Disk carbapenemase test using improved disks for rapid detection and differentiation of clinical isolates of carbapenemase-producing Enterobacterales.
Lee H Chong Y. Joint toxicity assessment reveals synergistic effect of chlorpyrifos and dichlorvos to common carp Cyprinus carpio. Kunwar PS Sapkota K. Rugo HS Waller CF. Greco R Tassorelli C. Human embryonic kidney HEK cell line: An alternative for rabies virus diagnosis and research.
Zamudio RM Taiwo BO Garofalo R. A new insight to characterize immunomodulation based on hepatopancreatic transcriptome and humoral immune factor analysis of the Cherax quadricarinatus infected with Aeromonas veronii. Guo L Wang H. Fermentation of blueberry juices using autochthonous lactic acid bacteria isolated from fruit environment: Fermentation characteristics and evolution of phenolic profiles.
Chai WS. Effects of nonylphenol exposure on histological changes, apoptosis and time-course transcriptome in gills of white shrimp Litopenaeus vannamei. Guo H Zhu X. Redesign of computerized decision support system to improve Non Vitamin K oral anticoagulant prescribing-A pre and post qualitative and quantitative study.
Khalil V. Elucidating the effects of TiO2 nanoparticles on the toxicity and accumulation of Cu in soybean plants Glycine max L. Xiao Y Luo L.
Clinical relevance of donor-specific human leukocyte antigen antibodies after pediatric liver transplantation. Liu W Li DH. Perampanel effectiveness and tolerability in patients with epilepsy at long-term follow-up. Fernandes M Liguori C. Overall survival in metastatic melanoma correlates with pembrolizumab exposure and T cell exhaustion markers. Navani V Schullian P
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