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作者在新生儿先天性代谢异常疾病的普查中,发现1例高TSH血症的患儿,经进一步检查证实,除有异位甲状腺肿大外,还伴有45,XO/47,XXX嵌合体的染色体畸变。病例,患儿,女,1个月,因高TSH血症入院检查。无甲状腺疾病家族史,孕36周因重症妊娠中毒曾服降压药治疗。患儿为高育龄父母(39岁和45岁),足月低体重(2,185g)出生,生后因呕吐行光线治疗,于第58天再度住院,身长51cm,体重4,180g,颜面浮肿,身长提示有克汀病倾向,患儿吸吮无力,有脐疝,活动尚好,四
In the census of neonatal congenital metabolic disorders, one case of hypercholesteremia was found. Upon further examination, we found that in addition to having ectopic goiter, there were 45, XO / 47, and XXX chimeras Chromosome aberration. Cases, children, women, 1 month, admitted to hospital for examination due to high TSH. No family history of thyroid disease, 36 weeks pregnant due to severe gestational poisoning had taken antihypertensive drug treatment. The children were of high fertility age (39 years old and 45 years old), full-term low birth weight (2,185g) were born, after birth due to vomiting light treatment, re-hospitalized on the 58th day, body length 51cm, weight 4,180g, facial swelling, Tips have cretinism tendencies, children sucking weakness, umbilical hernia, activity is good, four