Continuous limb tremors can create due to del18
Publish place: 2nd International & 10th National Neurogenetic Congress,
Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
NGCMED10_093
تاریخ نمایه سازی: 16 تیر 1397
Abstract:
Deletion of the P arm of chromosome 18, is a rare syndrome. Like most other chromosome disorders, 18pdeletionsincrease the risk of birth defects, developmental delay and learning difficulties. However, the problemsvary and depend very much on what genetic material is missing. In this study patient was girl 29 year old withmental retardation, Continuous limb tremors and difficulty speaking who were introduced to cytogeneticanalysis. We present this case of a girl with an 18p- deletion del(18)(p11.2). Phenotypical features were quitesimilar throughout the other cases and in accordance with the usual phenotype of del(18p). This rare syndromecharacteristically presents with delayed growth, slowly grow, gastro-esophageal reflux, learning difficulties,postponement of speech, difficulty speaking and communicating, short stature, short neck, chin or lower jawsmall and slightly receding, position of the ears lower than normal, position of the hairline lower than normal,dullness fine and gross motor skills, tremor, decay and irregular dentition, ptosis and scoliosis. In the event thather parents have normal chromosomes features, then the deletion this girl chromosome rearrangement involving18p deletion, the possibility is greatly increased of having could create during gametogenesis of her parents also.
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Authors
Parvaneh Keshavarz
Celluar and Molecular Research Center, school of Medicine (Department of Genetics), Guilan University of Medical Science, Rasht,Iran.
Arash Davoudi
Division of Cytogenetic, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran
Arezo Kahnamoei
Division of Cytogenetic, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran
Sara Afzali
Division of Cytogenetic, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran