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Triple X Syndrome with Short Stature: Case Report and Literature Review
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نویسنده
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Li Mingyan ,Zou Chaochun ,Zhao Zhengyan
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منبع
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innovative journal of pediatrics - 2012 - دوره : 22 - شماره : 2 - صفحه:269 -273
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چکیده
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Background: triple x syndrome is a sex chromosomal aneuploidy condition characterized by tal stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. it is mainly derived from maternal nondisjunctional errors during meiosis. to highlight the clinical features and diagnosis of triple x syndrome, we present a rare phenotype of the syndrome.case presentation: a 5.9 year-old girl was admitted to our hospital because of short stature. both her height and weight were below the 3rd percentile compared to the normal peers. she was found with mild motor and speech delay. laboratory investigation showed low level of igf-1 and zinc, elevated estradiol level and normal result of arginine provocation test.conclusion: our data suggest that triple x syndrome should also be suspected in patients with short stature, elevated estradiol and low level of igf-1, even with normal result of arginine provocation test
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کلیدواژه
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47 ,XXX; Insulin-Like Growth Factor-1; Sex Chromosome Aneuploidy; Short Stature; Triple X Syndrome
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آدرس
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Zhejiang University, Children’s Hospital, School of Medicine, Department of Child Health Care, China. Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, China, Zhejiang University, Children’s Hospital, School of Medicine, Department of Child Health Care, China. Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, China, Zhejiang University, Children’s Hospital, School of Medicine, Department of Child Health Care, China. Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, China
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پست الکترونیکی
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zhaozy@zju.edu.cn
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Authors
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