2q37 deletion syndrome

{{Infobox medical condition (new)

| synonyms = Brachydactyly-intellectual disability syndrome, Albright hereditary osteodystrophy type 3

| name = 2q37 deletion syndrome

| image = File:Autosomal dominant - en.svg

| caption = 2q37 deletion syndrome is inherited in an autosomal dominant manner

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2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more 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.{{cite journal|author=Leroy C.|author2=E. Landais|author3=S. Briault |author4= A. David|author5=O. Tassy|author6=N. Gruchy|author7=B. Delobel|author8=M. J. Grégoire|author9=B. Leheup|author10= L. Taine|author11=D. Lacombe|author12=M.A. Delrue|author13=A. Toutain|author14=A. Paubel|author15=F. Mugneret|author16=C. Thauvin-Robinet|author17=S. Arpin|author18=C. Le Caignec|author19=P. Jonveaux|author20=M. Beri|author21=N. Leporrier|author22= J. Motte|author23=C. Fiquet|author24=O. Brichet|author25=M. Mozelle-Nivoix|author26=P. Sabouraud|author27=N. Golovkine|author28=N. Bednarek|author29=D. Gaillard|author30=M. Doco-Fenzy|title=The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients|journal=European Journal of Human Genetics|date=Jun 2013|volume=21|issue=6|pages=602–12|doi=10.1038/ejhg.2012.230|pmid=23073310|pmc=3658200}} The first report of this disorder was in 1989.

Symptoms and signs

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 such as brachydactyly.{{cite journal |vauthors=Chaabouni M, Le Merrer M, Raoul O |title=Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region |journal=European Journal of Medical Genetics |volume=49 |issue=3 |pages=255–63 |year=2006 |pmid=16762827 |doi=10.1016/j.ejmg.2005.07.001|display-authors=etal}}{{cite web|title=2q37 deletion syndrome|url=http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf|publisher=Rare Chromosome Disorder Support Group|accessdate=8 April 2015|archive-url=https://web.archive.org/web/20150518080219/http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf|archive-date=18 May 2015|url-status=dead}}

Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others' emotions, and idiosyncratic use of words or phrases.

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.{{cite journal|author=Falk, R.E.|author2=K. A. Casas|name-list-style=amp|title=Chromosome 2q37 deletion: Clinical and molecular aspects|journal=American Journal of Medical Genetics|date=15 Nov 2007|volume=145C|issue=4|pages=357–371|doi=10.1002/ajmg.c.30153|pmid=17910077|s2cid=25719005}}

Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor,{{cite journal |vauthors=Viot-Szoboszlai G, Amiel J, Doz F |title=Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome |journal=Clin. Genet. |volume=53 |issue=4 |pages=278–80 |year=1998 |pmid=9650765 |doi=10.1111/j.1399-0004.1998.tb02696.x|s2cid=22222281 |display-authors=etal}} and hernias, spinal curvatures, osteopenia, hearing and sight difficulties can also occur.

Diagnosis

Techniques used to diagnose this disorder are fluorescence in situ hybridization (FISH) and microarrays. FISH uses fluorescent dyes to visualize sections under a microscope, but some changes are too small to see. Microarray comparative genomic hybridization (array CGH) shows changes in small amounts DNA on chromosomes.

Treatment

Therapy can help developmental delays, as well as physiotherapy for the low muscle tone.

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.{{cite book|author=Emily S Doherty|author2=Felicitas L Lacbawan|name-list-style=amp|title=2q37 Microdeletion Syndrome |chapter=2q37 Microdeletion Syndrome: In GeneReviews – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY|date=3 May 2007|pages=18|publisher=University of Washington, Seattle |pmid=20301337 |chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1158/|accessdate=8 April 2015}}

References

External links

{{Medical resources

| DiseasesDB = 34425

| ICD10 = Q93.5

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| OMIM = 600430

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[http://www.genetests.org/profiles/del2q37.2 GeneReviews: 2q37 deletion syndrome]