Turner综合征130例临床与细胞遗传学研究

为分析和探讨Turner综合征的临床以及细胞遗传学特征,通过遗传咨询和染色体核型综合分析进行疾病诊断 ,确诊了Turner综合征130例 ,年龄17d～38岁 ,其中<1岁3例 ,占2.3%,1～12岁55例 ,占42.3%。身材矮小103/109例 ,占94.5% ,成人身高平均为139cm。智能低下15/66例 ,占22.7 %。发现和证实18种染色体核型以及部分少见特殊病例。提示Turner综合征以身材矮小为主要临床表现 ,婴幼儿以手足背水肿、蹼颈为特征 ,儿童期以矮小为就诊原因 ,成人以闭经、第二性征不发育为主诉 ,细胞遗传学分析为确诊的主要手段。各种类型的染色体核型 ,具有特征性的X染色体数目异常或结构异常 ,与临床有一定的相关性和指导意义。     

Turner综合征合并右肾重度积水一例

患儿,女,3小时。因发绀2小时就诊。小儿足月自然产。出生体重3.85 kg。Apgar评分1分钟和5分钟均正常。生后1小时出现颜面青紫急来我院。患儿父母均体健,非近亲婚配。母孕2产2。第1胎女孩,足月顺产,已4岁,智力及体力发育正常。体检:体温36.9℃,呼吸42次/分,心率116次/分。无     

新型冠状病毒肺炎流行期间儿童和青少年的心理行为问题:Scoping综述北大核心CSCD

目的探讨新型冠状病毒肺炎(coronavirus disease 2019,COVID-19)流行期间儿童和青少年的心理行为问题及影响因素,为相关问题的防治提供参考依据。方法检索中国知网、万方知识数据服务平台、PubMed和Web of Science数据库,采用主题检索方式,检索时间为建库至2022年3月31日,提取相关文献数据进行Scoping综述。结果共检索到文献3951篇,最终纳入35篇,来自12个国家,多数文献来源于儿科学、精神病学、心理学及流行病学相关主题期刊,研究方法大多数采用横断面调查研究。儿童和青少年的心理行为问题主要包括抑郁/焦虑/压力、睡眠问题、网络行为问题、创伤后应激障碍和自伤/自杀5种。影响因素分别从社会人口学特征、生活方式的改变和COVID-19的应对方式3个方面进行分析。结论COVID-19流行期间,国内外儿童和青少年的心理行为问题形势严峻,未来可以通过相关影响因素进一步开展调查研究来改善相关心理行为问题。     

Psychosocial development in adolescents with Turner syndrome.

Turner syndrome is a genetic condition in which part or all of the second X chromosome is missing. Our goal in this study was to examine the psychosocial adjustment of a sample of adolescent girls with Turner syndrome. Subjects included 122 girls with a diagnosis of Turner syndrome (TS) and a control group of 108 girls with no genetic disorder or chronic illness. Subjects were 13 to 18 years of age. A battery of questionnaires assessing social, academic, school, and behavioral functioning was administered. TS girls were seen as having significantly more problems in terms of social relationships and school progress and were more likely to meet criteria for attention-deficit hyperactivity disorder than control girls. The TS girls were also rated by a parent as less socially competent (e.g., fewer friends, less time with friends) than the control group. Social difficulties appear to be an area of vulnerability for TS girls. Counseling individuals with Turner syndrome and their families about the need to carefully develop and nurture social skills and relationships may prove useful in advancing the social adaptation of these young women.     

Association of Turner syndrome with hypoplastic left-heart syndrome

Three cases of hypoplastic left-heart syndrome (HLH) associated with Turner syndrome (45,X) were seen during an 11-year interval. Several isolated case reports are present in the literature. This association is probably not fortuitous but, rather, may represent the most extreme form of a spectrum of left-sided heart anomalies seen in patients with Turner syndrome. The association of Turner syndrome with HLH, as well as other known genetic etiologies of HLH, underscores the need for a detailed genetic evaluation in all patients with HLH and argues for cytogenetic analysis for even nondysmorphic females with HLH.     

Turner syndrome and craniosynostosis

A girl with Turner syndrome and sagittal synostosis is described. The patient had a normal psychomotor development and no neurological impairments. Since more severe forms of craniosynostosis can occur in patients with Turner syndrome, a careful examination of the skull should be performed in all patients with this syndrome.     

Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.