Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Autistic disorders may occur together with various genetic...

background: chromosomal disorders are the most common cause of first trimester spontaneous abortion. among the human chromosomes, chromosome no.9 was the most common structural chromosomal variant and it is not thought to be of any functional importance, which often considers as a normal variation in structural polymorphisms, nevertheless there are some studies which claim that there is an asso...

We report on an adolescent female with Velocardiofacial syndrome (del(22)(q11.2)) and an epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient has characteristic signs of both disorders. JME has been linked to several chromosomes, but has not been related to 22q11.2 and is rarely observed in other genetic syndromes. We discuss possible explanations for a relat...

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

background: wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. in this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. objective: to investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from northeast china. mat...

Clinical geneticist tries to identify the etiology, mode of inheritance and the risk that a similar disorder may occur in the affected childs’ siblings. Five different categories are required for classification of the patients' disorder. Single gene mutations account for 6% of the children with congenital anomalies, chromosomal disorders 7.5%, multifactorial inheritance 20%, and disorders with ...

Disorders of gonadal development can result from chromosomal, genetic, endocrine, or structural abnormalities. The different conditions may have similar clinical features, but behavior and management will vary depending on the particular diagnosis. Disorders that appear in infancy and early childhood are often associated with ambiguous genitalia or abnormal sexual development. Distinction is ma...