47,XXX: what is the prognosis?
47,XXX: what is the prognosis?
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47、XXX：预后如何？
DOI：
10.1097/00006254-198910000-00013
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发表时间：
1988
期刊：
影响因子：
8
通讯作者：
A. Robinson
中科院分区：
文献类型：
--
作者：
M. Linden;B. Bender;R. Harmon;D. Mrazek;A. Robinson
在一项关于性染色体异常儿童的前瞻性研究中，从出生起就观察到11名年龄在15至22岁之间的47，XXX女孩。描述了它们的生长和发育。这47，XXX例婴儿在出生后的第一年内与染色体正常的儿童基本上没有区别，尽管在神经运动发育方面有轻微的延迟。到2岁时，言语和语言的发育迟缓往往变得明显，并且在学龄前几年经常需要言语治疗。早期的学校问题包括言语和语言缺陷，缺乏协调，学习成绩差，行为不成熟;这些问题在整个学年中一直存在。到了高中年龄，一个47岁的XXX女孩一般都很高，而且经常受到身体上的抱怨。性发育基本正常。11名先证者中有7名在青春期的某个时候被诊断为精神疾病或障碍。这种综合征的变异性很大;一个先证者是大学生，另一个是智力迟钝者。通过遗传穿刺术诊断47，XXX核型的频率估计为1/1000，与新生儿人群的发生率相同。必须告知准父母这种核型的意义，并提供预后信息。建议的准则包括在内。
Eleven unselected 47,XXX girls, now 15 to 22 years of age, have been observed from birth in a prospective study of children with sex chromosome anomalies. A description of their growth and development is presented. The 47,XXX infants were not generally distinguishable from chromosomally normal children in the first year of life, even though there was a slight delay in neuromotor development. By 2 years of age, developmental delays in speech and language often became evident, and speech therapy was often necessitated in the preschool years. Early school problems included speech and language deficiencies, lack of coordination, poor academic performance, and immature behavior; these persisted throughout the school years. By high school age, a 47,XXX girl was generally tall and often subject to somatic complaints. Sexual development was generally normal. Seven of the 11 propositae had a diagnosed psychiatric disorder or disturbance at some time during adolescence. Variability within this syndrome is great; one proposita is in college and another is mentally retarded. The frequency of the diagnosis of the 47,XXX karyotype by genetic amniocentesis is estimated to be 1/1000, the same incidence as in the newborn population. Expectant parents must be counseled as to the significance of this karyotype and prognostic information must be given. Suggested guidelines are included.