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A De Novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking
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نویسنده
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Esmaeili-Bandboni Aghil ,Davoudi Arash ,Milani Forozan ,Afzali Sara ,Sharafshah Alireza ,Fallahabadi Fereshteh ,Keshavarz Parvaneh
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منبع
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Caspian Journal Of Neurological Sciences - 2019 - دوره : 5 - شماره : 16 - صفحه:41 -47
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چکیده
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Background: the common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development.clinical presentation and intervention: in this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. in addition, gtg banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. in comparison with the usual phenotype of 18p deletion, many phenotypical features of this case were similar to the other cases of 18p monosomy.conclusion: however, two new features; difficulty in speaking and persistent limb tremor, were found that had not been observed in previous studies on the 18p deletion. speaking was without obvious pronunciation, and the patient rsquo;s physical movements were always unbalanced. these two features can be new signs for 18p deletion syndrome.
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کلیدواژه
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Chromosome Deletion ,Chromosome 18 ,Tremor ,Karyotype
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آدرس
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Guilan University Of Medical Sciences, School Of Medicine, Department Of Medical Genetics, ایران, Guilan University Of Medical Sciences, Division Of Cytogenetic, Dr. Keshavarz Medical Genetics Lab, ایران, Guilan University Of Medical Sciences, Reproductive Health Research Center, Alzahra Hospital, School Of Medicine, Department Of Obstetrics And Gynecology, ایران, Guilan University Of Medical Sciences, Division Of Cytogenetic, Dr. Keshavarz Medical Genetics Lab, ایران, Guilan University Of Medical Sciences, Cellular And Molecular Research Center,School Of Medicine, Department Of Medical Genetics, ایران, Guilan University Of Medical Sciences, Division Of Cytogenetic, Dr. Keshavarz Medical Genetics Lab, ایران, Guilan University Of Medical Sciences, Cellular And Molecular Research Center, School Of Medicine, Department Of Medical Genetics, Division Of Cytogenetic, Dr. Keshavarz Medical Genetics Lab, ایران
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پست الکترونیکی
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keshavarz@gums.ac.ir
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ارتباط بین مصرف نمک و پتاسیم با مالتیپل اسکلروزیس
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Authors
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Abstract
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Keywords
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