Presentation
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations. [analesdepediatria.org]
The present case was first published by Côté et al. [1981]. It was then considered to have an intact ring, but we recently detected a terminal del(2)(q37.3qter). [docksci.com]
Ring 14 chromosome presenting as early-onset isolated partial epilepsy. Dev Med Child Neurol. 2009;51:917–22. [ojrd.biomedcentral.com]
[…] of severe growth failure. (3) Larger ring chromosomes showed significantly more often instability than smaller rings, suggesting that there may be a correlation between ring instability and the size of the chromosome involved. (4) Growth failure was present [link.springer.com]
Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis. © 2015 S. [karger.com]
Entire Body System
- Short Stature
Full Text Dear Editor: Ring chromosome 2 was first described in 1981, encompassing a set of common phenotypic characteristics such as short stature, nonspecific dysmorphic features and varying degrees of psychomotor retardation.1 Ninety-nine percent of [analesdepediatria.org]
Other less frequently observed signs and symptoms are short stature, sleep disorders, celiac disease, juvenile osteoporosis/osteopenia, arthritis and cafe-au-lait spots. [ojrd.biomedcentral.com]
Musculoskeletal
- Osteoporosis
Other less frequently observed signs and symptoms are short stature, sleep disorders, celiac disease, juvenile osteoporosis/osteopenia, arthritis and cafe-au-lait spots. [ojrd.biomedcentral.com]
Psychiatrical
- Psychomotor Retardation
The patient showed mild psychomotor retardation, predominantly motor, with hypotonia. Chromosome 2 is the second largest human chromosome, accounting for 8% of the genetic material. [analesdepediatria.org]
Treatment
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
[…] various therapists and community services to provide support and care for families affected by ectodermal dysplasia osteosclerosis.Talk with your doctor if you or your child has been diagnosed with ectodermal dysplasia osteosclerosis to find the best treatment [globalgenes.org]
Prompt antibiotic treatment is recommended in all cases to control acute episodes of infection. [ojrd.biomedcentral.com]
Prognosis
Ophthalmology. 1999 Feb; 106(2): 330-7 Emerick,-K-M; Rand,-E-B; Goldmuntz,-E; Krantz,-I-D; Spinner,-N-B; Piccoli,-D-A Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. [malattierare.regione.veneto.it]
Clinical evolution and prognosis A precise prognosis in terms of expected lifespan in individuals with r(14) syndrome has yet to be established. [ojrd.biomedcentral.com]
Etiology
Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28:167-75. Hassold T, Chiu D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trissomy. Human Genet. 1985;70:11-7. [passeidireto.com]
Pathophysiology
Pathophysiology The rarity of the r(14) syndrome, the size variability of the duplication/deletion, the occurrence of mosaicism, and other not yet fully elucidated mechanisms have so far prevented precise genotype-phenotype correlations [16]. [ojrd.biomedcentral.com]
Prevention
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]
To prevent infections, the administration of vaccines is recommended, in particular anti-pneumococcus, anti-H. influenzae, and anti-meningococcal. [ojrd.biomedcentral.com]