1)Waardenburg syndromeWaardenburg综合征
1.Mutation screening of MITF gene in two Chinese families with Waardenburg syndrome type 2;Waardenburg综合征II型中国家系MITF基因突变分析
2.Clinical features of a Chinese pedigree of Waardenburg syndrome type 2;Waardenburg综合征Ⅱ型家系研究
3.To investigate the features of Waardenburg syndrome type II gene mutation in a Chinese pedigree at the level of molecular pathology.目的 :研究中国人Waardenburg综合征Ⅱ型MITF突变基因特点 ,从分子水平对Waardenburg综合征进行鉴别诊断 ,深化Waardenburg氏综合征的分子病理。
英文短句/例句
1.Genetic Analysis of Non-syndromic Hearing Loss and Waardenburg Syndrome;非综合征性耳聋及Waardenburg综合征的遗传学分析
2.Molecular Genetic Analysis of Waardenburg Syndrome and Non-syndromic Hearing LossWaardenburg综合征和非综合征型耳聋的分子遗传学研究
3.Mutation Screening of SOX10 Gene in One Chinese Family with Waardenburg Syndrome Type 2SOX10基因新突变导致Waardenburg综合征Ⅱ型家系的分析
4.The Outcomes Measures of the Cochlear Implantation in Patients with Waardenburg SyndromeWaardenburg综合征患者人工耳蜗植入后效果分析
5.Clinical Analysis of a Waardenburg Syndrome Type 2 Family and Mutation Detection for MITF Gene;Waardenburg综合征Ⅱ型一家系的临床分析和MITF基因的突变检测
6.anterior tibial compartment syndrome胫骨前肌综合征;胫骨前肌综合征;胫前间隔综合征;胫前间隔综合征
7.egg-drop syndrome 1976鸡减蛋综合征－1976
8.ectopic ACTH syndrome异位ＡＣＴＨ综合征
9.Case Report of McCune-Albright SyndromeMcCune-Albright综合征1例
10.adrenogenital syndrome肾上腺性征异常综合征
11.Nephrotic Syndrome and Congenital Multi-Malformation Syndrome肾病综合征与先天性多发畸形综合征
12.Madelung syndromeMadelung综合征(马德隆氏综合征)
13.Effect Evaluation of Comprehensive Intervention on 569 Cases of Metabolic Syndrome代谢综合征569例综合干预疗效评价
14.Combined Modality Therapy for 38 Cases of Obese Polycystic Ovary Syndrome综合治疗肥胖型多囊卵巢综合征38例
15.Combined treatment of superior vena cava syndrome from lung cancer肺癌致上腔静脉综合征综合治疗分析
16.Plummer-Vinson syndrome普鲁默－文森综合征
17.alveolar capillary block syndrome肺泡毛细管阻滞综合征
18.neoplastic endocrine-like syndrome肿瘤内分泌样综合征
相关短句/例句
waardenburg syndrome(WS)Waardenburg综合征(WS)
3)waardenburg syndrome type 2Waardenburg综合征Ⅱ型
4)POEMS syndromePOEMS综合征
1.Clinical Analysis of 5 Cases of POEMS Syndrome;POEMS综合征5例临床分析
2.Clinical manifestations and diagnosis of POEMS syndrome;POEMS综合征的临床表现及诊断
3.Clinical analysis of misdiagnosis of patients with POEMS syndrome;POEMS综合征临床误诊原因分析
5)Turner syndromeTurner综合征
1.Karyotypes and pelvic ultrasonography in children with Turner syndrome;Turner综合征患儿染色体核型和盆腔超声的分析
2.Effects of recombinant human growth hormone on height in Turner syndrome.;生长激素对Turner综合征的促身高作用
3.Marker chromosome analysis in Chinese patients with Turner syndrome by fluorescence in situ hybridization;Turner综合征患儿标记染色体的来源研究
6)Tourette's syndromeTourette综合征
1.Study on the character of auditory P300 of Tourette's syndrome with or without behavioral problems;Tourette综合征伴或不伴行为问题的P300研究
延伸阅读
三倍体综合征和三倍体与二倍体混合体综合征三倍体综合征和三倍体与二倍体混合体综合征 三倍体指增加一组额外的染色体，约占妊娠的2%。额外的染色体多来自父亲，66%由于两次受精，24%由于所受的精子是二倍体，10%由于受精的卵是二倍体。胎儿大都流产，约为染色体异常自然流产的20%。孕妇可以伴发不同程度的妊高征，胎儿由于胎盘囊性变或细胞遗传学异常而死亡，只有3%的69，XXY存活。偶有三倍体婴儿在妊娠28周后出生，二倍体与三倍体混合体综合征更少见，均有严重的发育缺陷。表现：胎盘大有囊性变。骨骼方面混合体综合征者骨骼生长不对称。颅骨发育不良，后囟门大，眼距过宽，虹膜缺损，甚至小眼。鼻梁低，耳畸形，口颌小。第3、4指并指，通贯掌纹，马蹄内翻畸形足。先天性心脏病(心房和心室间隔缺损)。男性尿道下裂，阴茎小，隐睾，睾丸间质细胞增生。脑异常。肾上腺发育不全，肾畸形。此类综合征胎体大多流产，出生后也会早期死亡。存活的二倍体与三倍体混合体一般都有精神运动障碍。
