ABSTRACT
We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).
Subject(s)
Chromosome Deletion , Turner Syndrome/genetics , X Chromosome , Adult , Female , Humans , Karyotyping , Lymphocytes/blood , Lymphocytes/pathology , Metaphase/genetics , Microsatellite Repeats , Mosaicism , Polymerase Chain Reaction/methods , Recombination, GeneticABSTRACT
Only nine non-polymorphic constitutional pericentric inversions of chromosome 9 have been described. We report on a familial inv(9)(p24q13) associated with sterility in three brothers. The mother's chromosomes were normal in blood lymphocytes (n=130); the father was already deceased and his karyotype unknown. However, the presence of any of the maternal chromosomes 9 (as assessed by C-banding) in her carrier children is inconsistent with the assumption of maternal mosaicism. Two single sisters were also carriers. The same rearranged chromosome 9 in the three sterile brothers can hardly be regarded as a fortuitous association, especially when the breakpoints are almost identical to those of the sole inversion previously found in an azoospermic male. If their father was a carrier, the observed sterility may be the result of 'chromosome anticipation', a phenomenon already invoked for certain familial chromosomal rearrangements.
Subject(s)
Chromosome Inversion , Chromosomes, Human, Pair 9 , Infertility, Male/genetics , Adult , Chromosome Mapping , Female , Genitalia, Male/abnormalities , Humans , Infertility, Male/blood , Infertility, Male/pathology , Male , Nuclear Family , Oligospermia/genetics , PedigreeABSTRACT
The industrial nurse works in an industrial plant, where in addition to manual workers and white-collar workers there is a manager, a physician (sometimes full-time, sometimes not), and a community either large or small acts as a framework and support to all these elements. This paper deals with the functions, possibilities, duties, rights and limitations of the industrial nurses vis-ã-vis workers, manager, the factory doctor, health and welfare agencies and even the professional nurses association of the community on which the industrial plant, no less than its employees, depends