Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. [ncbi.nlm.nih.gov]

When three copies of any one of the chromosomes are present, rather than the normal two, the outcome is 47 chromosomes in the cell, instead of the usual 46. [trisomy.org]

The term trisomy describes the condition in which an extra chromosome is present in the usual pair of homologous chromosomes. Three copies are present from in one homologous chromosome pair. [differencebetween.com]

Mosaic trisomy 18 has been detected in a few patients presenting with a clinical picture that varies from classical trisomy 18 to a normal phenotype depending on the number of trisomic cells present in the tissues. [orpha.net]

This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. [hindawi.com]

• Cognitive Impairment

  Zane is very cognitively impaired and very physically impaired—he can’t stand or walk, and he can’t sit without support. But the great thing about him is, he’s such a happy kid. He is interactive, he loves people, he’s very engaging. [thedailybeast.com]

  Introduction Trisomy 18 was first described in 1960 by Edwards et al, who reported a newborn with multiple malformations and cognitive impairment(1). [scielo.br]

This question featured in : Trisomy 13 syndrome treatment options Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [practo.com]

Management and treatment Management is supportive only. [orpha.net]

Prognosis Surgical treatment of the malformations does little to improve the poor prognosis associated with this syndrome: 90% of infants die within the first year of life from cardiac, renal or neurological complications, or from repeated infections. [orpha.net]

Developmental and physical delays are present in all three syndromes, but in trisomy 18 and trisomy 13 these delays are usually greater and the prognosis includes a much shorter life span, as most will not survive their first year of life. [trisomy.org]

Support Groups Support groups for trisomy 13 include: Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org Outlook (Prognosis) More than 90% of children with trisomy [mountsinai.org]

We called in a clergyperson for one case who candidly said he’d end the pregnancy, so bleak was the prognosis. [blogs.plos.org]

Prognosis Trisomy 2 may define a distinct subtype of MDS, which in combination with further clonal chromosomal changes gives rise to AML. Further cases need to be collated to substantiate this. [atlasgeneticsoncology.org]

Therefore, importance is likely to be placed on clarifying and managing etiological factors in future clinical studies. [oatext.com]

Etiology The majority of cases are associated with free trisomy 18. [orpha.net]

Etiology In ES, as well as in other trisomies, maternal age is usually older(6,9,13,17,30). [scielo.br]

Etiology and pathogenesis The trisomy 18 (or Edwards syndrome) phenotype results from full, mosaic, or partial trisomy 18q[4, 12–15]. [ojrd.biomedcentral.com]

Summary Epidemiology Incidence is estimated at between 1/6000 and 1/8000 births. In utero death occurs in more than 95% of fetuses with this chromosome anomaly. [orpha.net]

Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am. J. Med. Genet. A, 158A, 1145-50. PMID: 22495937 DOI. [embryology.med.unsw.edu.au]

Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 Oct;23(10):856-60. Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. [ghr.nlm.nih.gov]

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. [atlasgeneticsoncology.org]

Epidemiology Frequency United States Prevalence is approximately 1 in 6000-8000 live births. At the time of first trimester screening, the incidence of trisomy 18 is 1 in 400, but due to high spontaneous loss, the birth prevalence is 1 in 6500. [emedicine.medscape.com]

Pathophysiology See the list below: Trisomy 18 severely affects all organ systems. In translocations that result in partial trisomy or in cases of mosaic trisomy 18, clinical expression is less severe, and survival is usually longer. [emedicine.medscape.com]

In this study the authors also investigated the pathophysiology to death in patients who had intensive treatment; they distinguish between underlying factors associated with death and final modes of death. [ojrd.biomedcentral.com]

How can I help prevent trisomy 13 and trisomy 18 in my child? Researchers don’t know how to prevent the chromosome errors that cause these disorders. [stanfordchildrens.org]

Preventing & Screening For Birth Defects In honor of Birth Defects Prevention Month, we spoke to Dr. Neda Zadeh, a CHOC Children’s geneticist and the associate director of the Molecular Diagnostic Laboratory at Genetics Center. Dr. ... [blog.chocchildrens.org]

This particular trisomy disorder occurs in 1 in every 300 pregnancies, or 1 in 691 births in the United States, according to the Centers for Disease Control and Prevention (CDC). [blog.epichealthservices.com]