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山东大学医学院医学遗传学课件（七年制） chromosome disorders。
山东大学医学院医学遗传学课件（七年制） chromosome aberration。
Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Ligation Mental Retardation Hypersomnolence Idiopathic
2015/10/9
Background: Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adapt...
A REPORT OF 4 CASES OF CHROMOSOME ABNORMALITIES IN 115 FAMILIES WITH CONSANGUINEOUS MARRIAGE
Chromosome study Genetic counseling
2009/12/30
115 couples with consanguineous marriage, who had experienced reported abortions or still births either in their close relatives (3 couples) or themselves (1 couple) were exposed to genetic counseling...
Phenotypic and Cytogenetic Variety of Pure Partial Trisomy of Chromosome 16p
Chromosome pure partial trisomy interstitial duplication
2009/11/24
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding ...
Chromosome 2 fragility- 48,XXYY syndrome
case report chromosome fragility severe mental retardation 48 XXYY
2009/7/1
We report a case of double male syndrome, a type of Klinefelter syndrome with 48, XXYY chromosome. The case had been referred to our department because of severe mental retardation and behavioural and...
A Case of Bisatellited-Isodicentric Supernumerary Chromosome 15
ESAC (extra structurally abnormal chromosome) bisatellite isodicentric marker chromosome
2009/6/29
The frequency of extra structurally abnormal chromosomes (ESACs) is 0.2/1000 in live births and 0.6/1000 in midtrimester amniocentesis. The frequency is much higher (3.27/1000) in the mentally retarde...
Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation
Ectrodactyly bilateral syndactyly flat-syndactyly foot split-syndactyly hand p63 gene cytogenetics
2009/6/17
Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals ...
9号染色体短臂上7个STR基因座在基因扫描中的信息表现Information Behavior of 7 STR Loci on Chromosome 9p in Gene Scanning
汉族 STR基因座 遗传多态性 基因扫描
2007/12/31
摘要为了初步探讨7个位于染色体9p区域的短串联重复序列(short tandem repeat,STR)基因座：D9S288、D9S157、D9S1748、D9S171、D9S161、D9S1817和D9S1805在遗传学研究及法医学应用中的意义，随机抽取225名湖南汉族无关个体，复合PCR技术扩增上述基因座，ABI 377全自动测序仪进行基因分型，共检出75种等位基因，通过对基因型及等位片断频率...