ABSTRACT
A phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs+. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.
Subject(s)
Face/abnormalities , Intellectual Disability/genetics , Mosaicism/genetics , Ring Chromosomes , Adult , Female , Humans , Karyotyping , Longitudinal Studies , Phenotype , SyndromeABSTRACT
A fetus with 48,XXY,+21 was detected on routine amniocentesis at 15 weeks for advanced maternal age. Fibroblast cultures from six different tissues were initiated after termination and each showed the same karyotype without any tissue limited mosaicism. The only phenotypic abnormality detected at post-mortem examination was bilateral clinodactyly of the fifth finger which had been detected on ultrasound. The maternal serum alpha-fetoprotein and the femur length were normal. Maternal age remains an essential criterion for prenatal diagnosis.
Subject(s)
Amniocentesis , Chromosome Aberrations/diagnosis , Adult , Aneuploidy , Chromosome Disorders , Chromosomes, Human, Pair 21 , Female , Fingers/abnormalities , Fingers/diagnostic imaging , Humans , Karyotyping , Pregnancy , Pregnancy Trimester, Second , Radiography , Sex ChromosomesABSTRACT
The effect of unilateral naris occlusion on the cellular dynamics of developing olfactory epithelium was investigated in postnatal rats. Nares of rat pups, at 1, 5, and 10 d postnatally, were cauterized; after a 30 d survival period, the olfactory mucosa was examined histologically, and quantitative estimates were made of total number of receptor neurons (together with basal cells), supporting cells, and epithelial thickness. In each group, there were significant differences between occluded and patent sides in total numbers of neurons and in epithelial thickness but no difference in number of supporting cells. The differences were greater in the animals that had been occluded for 1-30 d than in the 5-35 or 10-40 d groups, suggesting that the earlier postnatal days are more sensitive to the effects of occlusion. We evaluated the number of mature olfactory neurons by staining immunohistochemically with an antibody against olfactory marker protein. There were no differences in the number of mature receptor neurons between the occluded and non-occluded sides, indicating the effect of naris occlusion was on the neurons in the immature and/or the "almost mature" population. Using 3H-thymidine autoradiography, we determined that there was a 40% reduction in the rate of neurogenesis in the animals occluded 1-30 d after birth. Further, the rate of cell proliferation in nasal respiratory epithelium declined by approximately the same amount.(ABSTRACT TRUNCATED AT 250 WORDS)
