Presentation
Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation present in both mothers: der(2), t(2;7)(p23;q36) mat. [jamanetwork.com]
Although the latter hypothesis is much less probable, it can not be rejected at the present time. [onlinelibrary.wiley.com]
When trisomy 2 mosaicism is detected during early pregnancy with chorionic villus sampling (CVS ), the affected cells may be confined only to the placenta, and not present in the fetus. [rarediseases.info.nih.gov]
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
In conclusion, chromosomal abnormality should be considered in children presenting with history of developmental delay and dysmorphic features. R. [hindawi.com]
Entire Body System
- Disability
Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[8869] Most cases are not inherited, but people can pass the duplication on to [rarediseases.org]
Features of trisomy 2 mosaicism may include intrauterine growth restriction (IUGR), any of various birth defects, distinctive facial features, growth delay, developmental delays, and intellectual disabilities .[1][2] However, children with trisomy 2 mosaicism [rarediseases.info.nih.gov]
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National Dissemination Center for Children with Disabilities [On-line information]. Available online at http://www.nichcy.org/pubs/factshe/fs4txt.htm. Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). [labtestsonline.it]
- Trisomy 21
What is trisomy 18? Trisomy 18, also known as Edwards syndrome, is the second most common trisomy behind trisomy 21 (Down syndrome). [medicinenet.com]
Cardiovascular
- Heart Disease
About 25% of patients may have congenital heart diseases (e.g., cardiomyopathy, septal defects, and great vessel anomalies). [hindawi.com]
Note The patient is a 73-year-old Asian male with rheumatoid arthritis, ischaemic heart disease, benign prostate hyperplasia and b-thalassaemia trait who presented with severe anaemia. [atlasgeneticsoncology.org]
Musculoskeletal
- Short Arm
arm of chromosome 5 and the short arm of chromosomes 13,14,15,21,or 22). [rarediseases.org]
Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation present in both mothers: der(2), t(2;7)(p23;q36) mat. [jamanetwork.com]
M.: Short arm deletion, chromosome 4, (4p-), a syndrome. Ann. hum. Genet. 34, 137–144 (1970) Google Scholar Warburton, D., Miller, D. A., Miller, O. J., Breg, W. R., de Capoa, A., Shaw, M. [link.springer.com]
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can J Ophthalmol. 1991 Feb;26(1):35–43. [ncbi.nlm.nih.gov]
Eyes
- Strabismus
Literature Our patient Short stature + + Prominent forehead + + Low posterior hairline + + Plump nose with broad nose + + Prominent nares + + Prominent and deformed ears + + Deep set eyes + + Strabismus + − Thick-everted lower lips + + High-arched palate [hindawi.com]
The eyes may be small (microopthalmia) or they may be an abnormal deviation of one eye in relation to the other (strabismus). [rarediseases.org]
Face, Head & Neck
- Hypertelorism
Dysmorphic facial features included prominent forehead, large prominent ears with prominent antihelices, deep-set eyes, hypertelorism, bilateral corneal opacities, broad nose, thick everted lips, and high-arched palate. [hindawi.com]
On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate [ncbi.nlm.nih.gov]
The eyes may be widely spaced (hypertelorism), have an upslant to them and the opening for the eye (palpebral fissure) may be small. There may also bevertical skin folds covering the eyes’ inner corners (epicanthal folds). [rarediseases.org]
Treatment
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
What is the treatment for trisomy 18? The treatment and management of children with Edwards syndrome is dependent upon the severity of findings. [medicinenet.com]
Prognosis
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]
Epidemiology
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]
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]
Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]