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2q37 deletion syndrome
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. The first report of this disorder was in 1989.〔
==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.〔(【引用サイトリンク】url=http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf )〕 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.〔 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.Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor, hernias, spinal curvatures, Osteopenia, hearing and sight difficulties can also occur.〔
It has been associated with Wilms' tumor and brachydactyly.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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