prenatal diagnosis of chronic granulomatous disease in a male fetus

Diagnosis of Chronic Granulomatous Disease

Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.

Fragile X syndrome, one of the most common human genetic diseases, is characterised by a unique genetic mechanism which involves dynamic mutation because of a heritable unstable DNA sequence and abnormal DNA methylation. Direct detection of the dynamic mutation and its methylation status at the DNA level would facilitate reliable tests for prenatal and postnatal diagnosis of the disease and for...

Genomic Organization and Restriction Fragment Length Polymorphism Analysis for Prenatal Diagnosis in Chronic Granulomatous Disease

The genetic defect in the p67Pk-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with Hindlll and probed with p67p"''x cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67Pk gene using the cDNA and sequen...

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus.

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.

Chronic Granulomatous Disease, Case Report and Review of Literature

  Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by inability of phagocytes to generate oxygen radicals needed for intracellular killing of phagocytic microorganisms. We report a 2.5-year-old Iranian female with multiple liver abscesses. She was admitted in surgical ward because of abdominal pain and fever for one month duration that had no response to conventio...