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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...
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...
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...
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...
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...
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...
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...
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 ...
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...
Sperm cells can be retrieved directly from the testis (testicular sperm extraction [TESE] procedure) and used for intracytoplasmic sperm injection (ICSI), circumventing underlying spermatogenetic ...
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...
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...

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