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KMID : 0390320150250010045
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Chungbuk Medical Journal
2015 Volume.25 No. 1 p.45 ~ p.50
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The Outcome of Rehabilitation on Patient with Chromosomal Abnormality, 46,XX,T(7:9)(p21:p12): A Case Report
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Kim Hyo-Jong
Lee Kyung-Moo
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Abstract
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46,XX,t(7;9)(p21;p12) is a very rare chromosomal disorder caused by a translocation between the band 21 of the short arm of chromosome 7 and the band 12 of the short arm of chromosome 9. This is closely associated with clinical symptoms such as early central hypotonia, muscle weakness, developmental delay, short stature and microencephaly. A 5-year-old girl diagnosed with 46,XX,t(7;9)(p21;p12) by a karyotyping was referred to our clinic after suffering from decreased muscle strength, mobility and exercise ability. She was put on outpatient rehabilitation for 4 weeks and a home exercise for 8 weeks; as a result, the patient improved muscle strength and exerciseabilityto a near normal functional level. The functionality of 46,XX,t(7;9)(p21;p12) and its rehabilitation management has rarely been reported in previous literatures. Therefore, we report the clinical manifestations of patients suffering from 46,XX,t(7;9)(p21;p12) and their rehabilitation process and results with the literature review.
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KEYWORD
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Chromosomal abnormality, 46, XX, t(7, 9)(P21, P12), Rehabilitation
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