优化特纳综合征的管理：从婴儿期到成人转诊
Optimising management in Turner syndrome: from infancy to adult transfer.
作者信息
Donaldson M D C, Gault E J, Tan K W, Dunger D B
机构信息
University of Glasgow, Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK.
出版信息
Arch Dis Child. 2006 Jun;91(6):513-20. doi: 10.1136/adc.2003.035907.
Abstract
Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. The condition occurs in approximately 1 in every 2000 live female births,(1) so that in the UK the prevalence for any year of life is in the region of 200 girls. The condition is much more common in utero, it being estimated that 1-2% of all conceptuses are affected, of whom only 1% will survive to term.
摘要
特纳综合征可定义为表型女性至少一个细胞系中的第二条X染色体缺失或异常。这种情况在每2000例活产女婴中约有1例发生，（1）因此在英国，任何一年的患病率约为200名女孩。这种情况在子宫内更为常见，据估计，所有受精卵中有1%-2%会受到影响，其中只有1%能存活至足月。
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