Objective:In order to explore the effect of sex chromosome complex abnormality on individual gonadal dysplasia, the formation mechanism of sex chromosome complex variation induced sex reversal was analyzed.Methods:Karyotype analysis chromosome microarray detection whole exome sequencing.Results:Hromosomekaryotype: 46, X, del(Y)(q11.23)[30]/46, X, add(Y)(q11.23) [30]. Chromosome microarray detection (CMA): The copy number of X chromosome is 1, the copy number of Yp11.32q11.223 is 1-2(including SRY Gene), the copy number of Yq11.223q12 is 1, the copy number of the rest Yq12 is 0, which indicates that the sex chromosome of the sample has complex changes.Total exome sequencing technique: There is no definite conclusion of the results, but it is suggested that the abnormal range and types of the detected data are basically consistent with the results of karyotype and CMA.Conclusions:The basic cause of the abnormal development of the chimera gonad is the abnormal karyotype, and the complex abnormality of sex chromosome is directly related to the abnormal development of individual gonad.

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.

目的 通过对92例Turner患者的外周血染色体进行分析,探讨其在临床应用中的重要性,以及遗传咨询和指导治疗.方法 收集不同年龄段的特纳综合征患者的样本,将其分为3个年龄组(分别为1-10岁组共29例,11-20岁组30例,＞20岁组33例),采用G显带技术进行染色体核型分析.结果 1-10岁组中数目异常13例,结构异常15例;11-20岁组中数目异常18例,结构异常10例;＞20岁组中数目异常14例,结构异常18例.其中1-10岁、11-20岁组中45,X核型占比最多.＞20岁组中数目异常的嵌合体比X单体占比略多.结论 特纳综合征是引起身材矮小、闭经、月经不调、性腺发育不良的重要原因.

患儿男,7月28天,因"间断抽搐18天"入院.患儿常急性起病,反复无热抽搐,有时表现为双眼上翻,四肢强直抖动,双手握拳,伴或不伴口唇发绀,意识不清,持续约10s～2min.外院考虑为癫痫,先后给予"咪达唑仑针,10％水合氯醛、苯巴比妥、地西泮针"止痉及口服"丙戊酸钠口服液"抗癫痫治疗,效果欠佳,遂来我院神经内科进一步诊治.查体:身高63.9cm,体重6.5kg,头围36cm,均低于同年龄、同性别正常参考值的第3百分位.眼距宽,鼻梁低平,耳位偏低,面容表情呆滞,精神反应差.双肺呼吸音清,未闻及杂音.心音有力,心率115次/分,率齐,胸骨左缘第3～4肋间可闻及杂音.腹软,肝、脾肋下未触及.四肢暖,肌张力低,不能独坐.

目的 1例异卵双生胎染色体核型调查分析.方法 采用外周血淋巴细胞培养,常规G显带(400带)进行染色体核型分析.结果 双胞胎妹妹核型异常,其异卵双胞胎姐姐核型为正常.结论 该双胞胎妹妹核型为46,XX,der (4)(4pter→4q13::7q22→7qter),der (7)(7pter→ 7q11.1::?::4q13→ 4qter),双胞胎姐姐核型为46,XX.