Prenatal diagnosis of chromosomal disorders requires an invasive test in women regarded as being at high risk after screening. There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first and second trimesters of pregnancy. With the association of some biochemical markers, it is possible to identify about 90% of chromosomal abnormalities....

OBJECTIVE This review considers the impact of chromosomal studies on the understanding of childhood neuropsychiatric syndromes, highlighting key discoveries, advances in technology, and new challenges faced by clinicians trying to interpret recent findings. METHOD We review the literature on the genetics of child psychiatric disorders, including autism, childhood-onset schizophrenia, attentio...

A crucial factor in maintaining genome stability is establishing deoxynucleoside triphosphate (dNTP) levels within a range that is optimal for chromosomal replication. Since DNA replication is relevant to a wide range of other chromosomal activities, these may all be directly or indirectly affected when dNTP concentrations deviate from a physiologically normal range. The importance of understan...

BACKGROUND In patients with hereditary or constitutional chromosomal anomalies, testicular carcinoma can develop sporadically or on the basis of an underlying hereditary genetic defect. Greater knowledge of these genetic defects would provide more insight into the molecular pathways that lead to testicular carcinoma. To the authors' knowledge, little attention has been paid to date to the comor...

Background: Recurrent pregnancy loss (RPL) is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of heterochromatin polymorphism in couples with recurrent miscarriages compared with couples without miscarriages. Materials and Methods: Over a 3 year period, we made a study of the diagno...

Myelodysplastic syndrome is a closely related group of acquired bone marrow disorders characterized by ineffective and dysplastic hematopoiesis. These clonal disorders frequently progress to acute leukemia. Acute myelomonocytic leukemia with eosinophilia is characterized by an increase in abnormal eosinophils in the bone marrow, relatively good clinical course and inv (16) chromosomal abnormali...

Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

Many human diseases are associated with cytogenetic abnormalities or chromosomal disorders including translocations, deletions, duplications, inversions, and other complicated chromosomal changes. Fluorescence in situ hybridization (FISH), a technique involving hybridization of labeled probes to chromosomes and detection of hybridization via fluorochromes, has become a popular method for identi...

one of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. we report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. chromosomal studies were performed on the basis of g-banding technique at high resolution and revealed 46, xx, t (16 6) (p12 q26) and 46, x...

Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translo...