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首页> 外文期刊>Hong Kong Journal of Paediatrics >Tetrasomy X in a Child with Multiple Abnormalities: Case Report and Literature Review from China
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Tetrasomy X in a Child with Multiple Abnormalities: Case Report and Literature Review from China

机译：多发性异常儿童X四体切开术：中国病例报告及文献复习

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摘要

Polysomy of the X chromosome is a very rare disorder, and little information is available in the literature. Tetrasomy X was first reported in 1961 and only approximately 60 cases have been reported. Herein, we reported a 5-year-old girl with tetrasomy X, who presented to our clinics because of "short stature". She was born to a G2P2 mother at 39 weeks of gestation with a birth weight of 3.5 kg. She started walking at 16 months of age, and speaking at 18 months. She had syndactyly in both hands and patent ductus arteriosus (0.7 cm), which were corrected by surgery soon after birth and at 7 months of age, respectively. She also had a history of epilepsy for 3 years with 4 episodes of convulsion but none in the past two years, and depakine was administered till now. She was apt to get pneumonia. She was 105 cm in height and 13 kg in weight, showing a coarse face with ocular hypertelorism and epicanthus. She presented with female external genitalia with Tanner I breast and external genitalia development. Her pelvic ultrasound showed immature uterus and ovarian. Intelligence quotient test revealed low intellectual functioning (IQ: 51). Cytogenetic investigation revealed a karyotype of 48,XXXX. These data showed that in females with intellectual disabilities, abnormal height, microcephaly, skeletal and limb anomalies, and congenital heart defects, 48,XXXX karyotype should be considered although it is an extremely rare entity.
机译：X染色体多态性是非常罕见的疾病，文献中几乎没有信息。 X线粒体X线术最早是在1961年报道，仅报道了60例。在此，我们报道了一个5岁的X染色体四体性女孩，由于“身材矮小”而出现在我们的诊所。她是在妊娠39周时出生的G2P2母亲，出生体重为3.5千克。她从16个月大开始走路，到18个月才开始说话。她的双手和动脉导管未闭（0.7厘米）都患有骨质疏松症，分别在出生后不久和7个月大时通过手术进行矫正。她也有癫痫病史3年，有4次抽搐，但在过去两年中没有发作，并且一直服用depakine。她容易得肺炎。她的身高为105厘米，体重为13公斤，露出一张粗大的眼睛，眼部肌肉过度紧张并epi上。她表现出女性外生殖器，Tanner I乳房和外生殖器发育。她的骨盆超声检查显示子宫和卵巢未成熟。智商测试显示智力功能低下（智商：51）。细胞遗传学调查显示，核型为48，XXXX。这些数据表明，在智力障碍，身高异常，小头畸形，骨骼和肢体异常以及先天性心脏缺陷的女性中，尽管48，XXXX核型是极为罕见的实体，但仍应考虑。

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