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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
2013/10/9
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...
Re-Examining the Out-of-Africa Theory and the Origin of Europeoids (Caucasoids). Part 2. SNPs, Haplogroups and Haplotypes in the Y Chromosome of Chimpanzee and Humans
Y-Chromosome Mutations Haplotypes Haplogroups Primates Chimpanzees, SNP Out-of-Africa
2012/11/22
Our consideration of human haplogroups, and our analysis of the dynamics of the Y-chromosome nucleotide flow from primates to humans during the evolution of genus Homo has shown that a common ancestor...
The Association between Y Chromosome Microdeletion and Recurrent Pregnancy Loss
Infertility Recurrent pregnancy loss Miscarriages Y chromosome microdeletion AZF regions
2012/9/25
Background: To date, the role of male factor contributing in evaluation of spontaneous recurrent pregnancy loss (RPL) has been less investigated and there is discrepancy in the role of Y chromosome mi...
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 ...
The incidence of chromosome gain and loss and chromosomal aberrations has been measured in 48-h lymphocyte cultures of divers and control subjects as part of an overall research program to identify po...
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 ...
Hypogonadotropic hypogonadism and anosmia（Kallmann's syndrome）associated with a marker chromosome
Hypogonadotropic hypogonadism anosmia（Kallmann's syndrome） marker chromosome
2009/2/23
A patient with hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) had an associated chromosomal abnormality. Evaluation of the hypothalamic pituitary axis showed undetectable basal LH a...
Three-generation evaluation of Y-chromosome microdeletion
Three-generation evaluation Y-chromosome microdeletion
2009/2/18
Sperm cells can be retrieved directly from the testis (testicular sperm extraction [TESE] procedure) and used for intracytoplasmic sperm injection (ICSI), circumventing underlying spermatogenetic ...
Use of a rat cDNA probe specific for the Y chromosome to detect male-derived cells
Sty gene polymerase chain reaction
2009/2/17
A cDNA probe that exhibits specificity for the rat Y chromosome was generated by using a set of primers specific to the murine Sry gene, the sex-determining region of the Y chromosome. A 459-base pa...
Assignment of the gene for human intra-acrosomal protein SP-10 to the p12----q13 region of chromosome 11
Spermatogenesis testis-specific gene somatic
2009/2/7
The human sperm antigen SP-10 is a testis-specific, intra-acrosomal protein associated with the membranes of the acrosomal vesicle. The molecule has been designated a "primary vaccine candidate" b...