2q37 deletion syndrome
| 2q37 deletion syndrome | |
|---|---|
| Classification and external resources | |
| DiseasesDB | 34425 |
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2.2q37 deletion syndrome describes a disorder in which one or multiple of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted.[1] The first report of this disorder was in 1989.[1]
Symptoms
The earliest signs and symptoms occur in newborns and consist of hypotonia, but show up in youth as developmental delays, low muscle tone, learning disabilities, being overweight, autism-like symptoms, seizures, eczema, asthma, chest and ear infections, and abnormalities in face, hands, and feet.[2] Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others’ emotions, idiosyncratic use of words or phrases.[2] People with this disorder also tend to have a characteristic appearance, including prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae.[3] Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor, hernias, spinal curvatures, Osteopenia, hearing and sight difficulties can also occur.[2]
It has been associated with Wilms' tumor[4] and brachydactyly.[5]
Diagnosis
Techniques used to diagnose this disorder are fluorescence in situ hybridization (FISH) and microarrays.[2] FISH uses fluorescent dyes to visualize sections under a microscope, but some changes are too small to see.[2] Microarray comparative genomic hybridization (array CGH) shows changes in small amounts DNA on chromosomes.[2]
Prognosis
While only a few adults have been reported with 2q37 microdeletion syndrome, it is predicted that this number will rise as various research studies continue to demonstrate that most with the disorder do not have a shortened life span.[6]
Treatment
Therapy can help developmental delays, as well as physiotherapy for the low muscle tone.[2] Exercise and healthy eating can reduce weight gain. Treatments are available for seizures, eczema, asthma, infections, and certain bodily ailments.
See also
References
- 1 2 Leroy C., E. Landais, S. Briault , A. David, O. Tassy, N. Gruchy, B. Delobel, M. J. Grégoire, B. Leheup, L. Taine, D. Lacombe, M.A. Delrue, A. Toutain, A. Paubel, F. Mugneret, C. Thauvin-Robinet, S. Arpin, C. Le Caignec, P. Jonveaux, M. Beri, N. Leporrier, J. Motte, C. Fiquet, O. Brichet, M. Mozelle-Nivoix, P. Sabouraud, N. Golovkine, N. Bednarek, D. Gaillard, M. Doco-Fenzy (Jun 2013). "The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients". European Journal of Human Genetics 17: 1–11. doi:10.1038/ejhg.2012.230.
- 1 2 3 4 5 6 7 "2q37 deletion syndrome" (PDF). Rare Chromosome Disorder Support Group. Retrieved 8 April 2015.
- ↑ Falk, R.E. and K. A. Casas. (15 Nov 2007). "Chromosome 2q37 deletion: Clinical and molecular aspects". Journal of Medical Genetics 145C (4): 357–371. doi:10.1002/ajmg.c.30153. Retrieved 8 April 2015.
- ↑ Viot-Szoboszlai G, Amiel J, Doz F; et al. (1998). "Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome". Clin. Genet. 53 (4): 278–80. doi:10.1111/j.1399-0004.1998.tb02696.x. PMID 9650765.
- ↑ Chaabouni M, Le Merrer M, Raoul O; et al. (2006). "Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region". European Journal of Medical Genetics 49 (3): 255–63. doi:10.1016/j.ejmg.2005.07.001. PMID 16762827.
- ↑ Emily S Doherty and Felicitas L Lacbawan (3 May 2007). "2q37 Microdeletion Syndrome". GeneReviews: 18. Retrieved 8 April 2015.