通过超声筛查胎儿头颈部异常以找出其与染色体病的相关性。
To find out the correlation of fetal head and neck abnormality to chromosome disease through ultrasound screening survey.
目的：探讨唐氏筛查及产前诊断在预防和减少染色体病及先天缺陷儿出生的实用价值。
Objective: To explore the practical value of Down's screening and antenatal diagnosis in preventing and decreasing chromosomal disease and congenital birth defect.
NT增厚除了与染色体病密切相关外，还与先天性心脏病、胎儿畸形、贫血、感染等因素相关。
NT thickening is related to chromosomal syndromes closely, still to congenital heart disease, fetal abnormalities, anemia, infection factors.
目的分析妊娠相关血浆蛋白a (PAPP - A)在产前筛查胎儿染色体病时的灵敏度和假阳性。
Objective To determine the sensitivity and false-positive rate of maternal serum pregnancy associated plasma protein a (PAPP-A) screening for abnormal fetal karyotype.
目的：建立临床实用的快速检出染色体病新的分子细胞遗传学方法，为指导优生优育和产前诊断工作提供可运行的实验检测手段。
Objective: to establish a new, rapid and clinical practical molecular cytogenetic method for diagnosing the chromosomal diseases as well as guiding aristogenesis and prenatal diagnosis.
拍·达马查育拒绝自首，声称自己患有糖尿病和特纳综合征，后者是一种和染色体有关的失调。
Phra Dhammachayo has refused to turn himself in, asserting that he suffers from diabetes and Turner syndrome, a chromosomal disorder.
这些片断高度同源于1号和14号人类染色体上的某些区域，但功能目前尚不清楚，有可能与抑糖尿病基因有关。
They were selected for sequencing and hybridization. They showed highly homologous to some regions of Human chromosome 1 and 14, but the fragments functions are unknown.
皮窦是一种犬类的常染色体遗传病。
Dermoid sinus is a genetic, autosomal skin condition in dogs.
费城染色体(一般出现在CML)在白血病样反应中一般不出现。
The Philadelphia chromosome (universally present in CML) is lacking in patients with leukemoid reactions.
聋哑是常染色体隐性遗传病，通过遗传分析发现，减少或防止近亲结婚可以降低聋哑人的出生。
It is a recessive hereditary disease of autosome to be deaf and dumb. it was analysed through heredity that reducing or preventing consanguineous marriage can reduce the deaf-mute's birth rate.
目的探讨骨髓染色体核型分析在恶性血液病诊断、治疗及预后判断中的价值。
Objective To investigate the value of spinal marrow chromosome karyotyping in the diagnosis. treatment and prognosis of malignant hemoblastosis.
为了阐明放射病的远后效应，对该5名受照者连续进行照后14年的染色体畸变随访观察，为辐射远后效应评价积累资料。
To investigate late effects of ars, 14 years continuous follow-up study of chromosomal aberrations in these 5 victims was performed to accumulate valuable data on late effect of radiation.
目的评价自体外周血造血干细胞移植（PBSCT）治疗无染色体异常的急性白血病（AL）的疗效。
Objective To evaluate the effect of auto-peripheral blood stem cells transplantation (PBSCT) for acute leukemia (AL) without abnormal chromosome.
目的研究儿童急性淋巴细胞白血病(all)染色体变化，探讨其临床意义。
Objective To analyze the chromosomal changes and its clinical significance in childhood acute lymphoblastic leukemia (ALL).
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
本研究旨在探讨急性髓系白血病(aml)患者6；9染色体易位与DEK - CAN融合基因表达之间的关系及临床意义。
This study was aimed to explore the relationship of 6; 9 chromosome translocation with DEK-CAN fusion gene expression in patients with acute myeloid leukemia (AML) and its clinical significance.
方法：1。标本获取及分组采集107例白血病、20例MDS病人及20例正常对照组骨髓进行染色体培养、制备及细胞冻存。
Methods 1. Patient samples: Bone marrow or blood cells were obtained from 107 patients with leukemia, 20 patients with MDS and 20 controls for chromosome and frozen cell purpose.
利用抗病分离群体，我们在野生二粒小麦2B染色体上发现了多个抗白粉病基因，并利用SSR分子标记进行了定位。
Several powdery mildew resistance genes derived from wild emmer accessions have been mapped on the short and long arms of chromosome 2B by SSR marker.
胱氨酸病是以常染色体隐性方式遗传。
Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.
特定的染色体和融合基因可作为白血病的标志物，对白血病的诊断、预后估计、监测治疗和微小残留白血病等方面具有一定的价值。
The specific chromosome and fusion gene are regarded as marker of leukemia, and helpful in leukemia diagnosis, evaluating prognosis, monitoring of treatment and minima residual leukemia.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
作为卒中、痴呆和偏头痛的病因，伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)越来越受到人们的重视。
As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy (CADASIL) has been paid increasing attention.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
目的探讨2型糖尿病的分子遗传机理，确定2型糖尿病致病基因染色体定位。
Objective To disclose the molecular genetic mechanism of type 2 diabetes mellitus and to determine chromosomal location of type 2 diabetes mellitus gene.
目的探讨8号染色体三体（8三体）对急性粒单、单核细胞白血病（M4、M5）细胞生物学及临床特征的影响。
Object:To evaluate the prognostic impact of trisomy 8 on cytobiological and clinical features in acute myelomonocytic and monocytic leukemia (M4, M5).
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
甘油激酶缺乏症（GKD）是一种少见的X染色体隐性遗传性代谢缺陷病，可分为单纯型和复合型。
Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex.
目前研究发现此病有三种遗传方式：即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。
At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
目前研究发现此病有三种遗传方式：即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。
At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
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