Objective:Through chromosomal karyotype analysis and chromosome microarray detection of a newborn with apnea and poor development, to explore the correlation between clinical etiology and chromosomal variation, and to evaluate the application value of traditional karyotype analysis and microarray chip technology in clinical practice.Methods:Firstly, the peripheral blood chromosome G-banding karyotype analysis was performed in the children. Secondly, the chromosome microarray chip detection technology was used to accurately locate the variant fragments and identify the pathogenic genes.Results:The result of traditional karyotype analysis of the child was 46,X,add(15)(p13),+mar, considering the existence of sex chromosome abnormalities and autosomal imbalance variation in this karyotype. The results of the microarray chip showed that the patient conformed to the male karyotype, and there were partial duplications in the short arm of the X chromosome and the long arm of the Y chromosome.Conclusions:The clinical etiology of this child is related to gene copy number variation. The partial duplication of the short arm of the X chromosome may be the main factor leading to sexual reversal and abnormal brain development in this child. And the apnea of the child is considered to be caused by abnormal brain development and neonatal pneumonia. The trraditional karyotype analysis has certain limitations, while microarray chip technology can accurately identify variant fragments and clarify disease-causing genes, which is of great diagnostic significance.

皮肤粘膜淋巴结综合症(Mucocutaneous Lymph Node Syndrome,MCLS)又称川崎病(Kawasaki disease,KD),是一种以全身血管炎改变为主要病变的急性发热出疹性疾病,临床表现以持续发热、皮疹、手足硬性水肿、眼结膜充血等表现等为主要表现,因其可导致严重心血管并发症,得到了越来越多的重视,新生儿发病少见.我院近期收治2例新生儿川崎病,现报告如下.

目的 通过本项研究对新生儿肠道病毒感染的病原学、临床特点与机体的免疫状态进行分析.方法 有发热或腹泻或皮疹等症状的日龄6-28天新生儿进行相应检测.结果 荧光定量PCR检测总阳性率12.37％,阳性病例集中在5、6、7、8月,临床表现以发热、咳嗽、吐沫、皮疹、血糖升高、转氨酶升高为主,淋巴细胞亚群检测提示新生儿肠道病毒感染急性期天然免疫占主导作用,体液免疫IgA、IgM有显著差异.结论 早发现、早干预可以使病情得到控制,对于院感防控有重要意义,通过临床表现及相应检测及时发现危重病人,降低死亡率、改善预后.