ABSTRACT
Centromeric instability of chromosomes 1, 9, and 16 has been described in eight patients with variable immunodeficiency. Although the pathogenetic relationship of these cytogenetic abnormalities with the clinical symptoms are unclear, it has nevertheless been proposed that they are a hallmark of this syndrome. Based on the clinical, immunological and cytogenetic data from the literature, a model is presented suggesting that the cytogenetic changes are not causatively involved in the immunodeficiency syndrome, but result from specific virus infections occurring as a consequence of the immunodeficiency in genetically predisposed individuals.
Subject(s)
Centromere , Chromosome Aberrations/etiology , Chromosomes, Human, Pair 16/analysis , Chromosomes, Human, Pair 1/analysis , Chromosomes, Human, Pair 9/analysis , Chromosomes , Heterochromatin/analysis , Immunologic Deficiency Syndromes/etiology , Virus Diseases/complications , Chromosome Disorders , Chromosome Fragility , DNA Damage , Humans , Immunologic Deficiency Syndromes/geneticsABSTRACT
Trisomy 16 detected at chorion villus sampling (CVS) may reflect the placental but not the fetal karyotype. We describe a case in which the pregnancy continued until intrauterine death at 37 weeks. Cytogenetic study of two placental samples showed 47, + 16 and 46,XX; the fetus was morphologically grossly normal, but fetal tissue culture was unsuccessful. Conservative management may be appropriate when trisomy 16 is detected at CVS and the pregnancy is normal ultrasonographically.
Subject(s)
Chorionic Villi Sampling , Chromosomes, Human, Pair 16/analysis , Trisomy , Adult , Female , Fetal Death/pathology , Humans , PregnancyABSTRACT
The authors propose a method of direct quantitative estimation of C-segment size in human chromosomes from display screen. This method has some advantages as compared with the analysis of C-segment size from the photo-negatives due to less difficulty and satisfactory reproducibility of the results.
