Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking

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Esmaeili Bandboni Aghil; DAVOUDI ARASH; MILANI FOROZAN; Afzali Sara; SHARAFSHAH ALIREZA; Fallahabadi Fereshteh; KESHAVARZ PARVANEH

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Journal: Caspian Journal of Neurological Sciences Year:2019 | Volume:5 | Issue:1 (16) Page(s): 41-47

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Title

Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking

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Keywords

Chromosome deletion

Chromosome 18

Tremor

Karyotype

Abstract

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’ s physical movements were always unbalanced. These two features can be new signs for 18p deletion syndrome.

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APA: Copy

Esmaeili Bandboni, Aghil, DAVOUDI, ARASH, MILANI, FOROZAN, Afzali, Sara, SHARAFSHAH, ALIREZA, Fallahabadi, Fereshteh, & KESHAVARZ, PARVANEH. (2019). Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking. CASPIAN JOURNAL OF NEUROLOGICAL SCIENCES, 5(1 (16)), 41-47. SID. https://sid.ir/paper/344684/en

Vancouver: Copy

Esmaeili Bandboni Aghil, DAVOUDI ARASH, MILANI FOROZAN, Afzali Sara, SHARAFSHAH ALIREZA, Fallahabadi Fereshteh, KESHAVARZ PARVANEH. Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking. CASPIAN JOURNAL OF NEUROLOGICAL SCIENCES[Internet]. 2019;5(1 (16)):41-47. Available from: https://sid.ir/paper/344684/en

IEEE: Copy

Aghil Esmaeili Bandboni, ARASH DAVOUDI, FOROZAN MILANI, Sara Afzali, ALIREZA SHARAFSHAH, Fereshteh Fallahabadi, and PARVANEH KESHAVARZ, “Case Report: A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking,” CASPIAN JOURNAL OF NEUROLOGICAL SCIENCES, vol. 5, no. 1 (16), pp. 41–47, 2019, [Online]. Available: https://sid.ir/paper/344684/en

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