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Mosaic Trisomy 14
Trisomy 14 Mosaicism

Presentation

Last updated: 11/16/2012 Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. [rarediseases.info.nih.gov]

In some individuals with the syndrome, additional physical abnormalities may also be present. [rarediseases.org]

Gastrointestinal

  • Failure to Thrive

    Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay ; intellectual disability ; distinctive facial characteristics; structural malformations of the heart; and other [rarediseases.info.nih.gov]

    Chromosome 14, Trisomy Mosaic may also be characterized by abnormal growth delays before birth (prenatal growth retardation) and a failure to grow and gain weight at the expected rate (failure to thrive) during infancy. [rarediseases.org]

Treatment

Last updated: 11/16/2012 Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of Chromosome 14, Trisomy Mosaic is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Epidemiology

The Cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978;44:227-275. https://doi.org/10.1007/bf00394291. Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, et al. [medicinaylaboratorio.com]

Prevention

National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. [labtestsonline.it]

It is hoped that this new knowledge will lead to prevention and treatment of chromosomal disorders in the future. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. [rarediseases.org]

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