background and objectives: primary amenorrhea is not a disease but a symptom that may result from several quite different causes[nn1] . common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. the aim of this study was to estimate the incidence of the chromosomal abnormality referred for...

Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results ofthe affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1 :47,XX,+21); (2) advanced maternal age: 54 cases (1 :47,XXY; 1 :45,X/46,XY mosaicism...

Two main colorectal polyposis syndromes have been described, familial adenomatous polyposis and MUTYH-associated polyposis syndromes. Some polyposis remains unexplained: 20% of adenomatous polyposis and serrated polyposis. The aim of this study was to evaluate in a cohort of patients with unexplained polyposis whether a genetic defect could be detected. Individuals presenting polyposis with mor...

Epigenetic mosaicism is a possible source of within-plant phenotypic heterogeneity, yet its frequency and developmental origin remain unexplored. This study examines whether extant epigenetic heterogeneity within Lavandula latifolia (Lamiaceae) shrubs reflects recent modifications experienced independently by different plant parts or, alternatively, it the cumulative outcome steady lifetime pro...

BACKGROUND Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary...