Autism spectrum disorders are complex, highly heritable neurodevelopmental disorders affecting ∼1 in 100 children. Copy number variations of human chromosomal region 16p11.2 are genetically linked to 1% of autism-related disorders. This interval contains the MAPK3 gene, which encodes the MAP kinase, ERK1. Mutations in upstream elements regulating the ERK pathway are genetically linked to autism...

background: different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. objective: the purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortio...

Cytogenetic and molecular studies demonstrated that pancreatic cancer frequently shows specific chromosomal abnormalities, such as losses of 9p, 17p, and 18q, and gains of 8q and 20q. We have analyzed alterations in the copy number of specific chromosomal regions in cells from the pancreatic juices of 32 patients with various pancreatic disorders by fluorescence in situ hybridization (FISH) tec...

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is of...

x-chromosome inactivation (xci) is a process by which one of the copies of the x chromosome in mammalian female cells is inactivated. the xci causes a balanced x-linked gene quantity between male and females; moreover, it results mosaic females which have paternal active x in some cells and maternal active x in others. cellular mosaicism is a noteworthy phenomenon and lowers the risk of x-linke...

Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes. Chromosomal imprinting effects are revealed when uniparental disomy occurs, as in the Prader-Willi synd...

The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males. In this study, we investigated the distribution of a G2457A polymorphism in patients with affective disorders, suicide attempters with various psychiatric diagnoses and ...

BACKGROUND Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. METHODS Detailed clinical assessment, electrophysiological studies, survey of t...

Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...

Abstract Purpose The aim of this guideline is to standardize the diagnosis and therapy recurrent miscarriage (RM) using evidence from recent literature. This done by consistent definitions, objective evaluations standardized treatment protocols. Methods When was compiled, special consideration given previous recommendations in prior versions European Society Human Reproduction Embryology, Royal...