Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level.

Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and neural tube development. The anomalies found in the embryo indicate primary morphogenetic disturbances arising at the initial stage of organogenesis. Investigation of LHC-431 strain cells derived from musculocutaneous embryonic fragments revealed a complex of cytophenotypic alterations similar to the cellular syndrome of trisomic cells and indicating an insufficient biologic maturity of the mutant cells (alterations of cellular form, disturbances in their contact orientation, underdevelopment of fibrillar apparatus and decreased collagen formation, changes in the accumulation of intracellular metabolic products, decreased growth capacity and alterations of mitotic cycle parameters). It was found that the single chromosome 21 takes part in assocations twice as frequently as would theoretically be expected.

[Duchenne's muscular dystrophy in a girl with 45,X/46,XX chromosomal mosaicism]. / Myshechnaia distrofiia Diushenna u devochki s khromosomnym mozaitsizmom 45,X/46,XX.

The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies (only 4 cases in the world literature); monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a 5 year old girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood and skin fibroblasts. The authors indicate to a necessity of a thorough cytogenetical study in girls, if there is a clinical picture of Duchennes muscular dystrophy.