Biomedical subjects
Publications and source records attributed to B Lauras.
In the first part, the authors review the different methods used in gene mapping studies. In the second part, human chromosomes map is studied in details. The scientific usefulness of the map is summed up and the first applications in the field of genetic counselling are mentioned. Finally the forthcoming therapeutic applications are being planned at the time.
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A ring chromosome derived from a No. 4 chromosome was found in the complement of an 8-year-old boy with mental retardation and growth retardation and developmental defects characteristic of 4p deletion. Break points were at 4p15 and 4q35.
Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.
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The 11th case of congenital short small intestine malrotation is described. Its clinical features associated diarrheic episodes and subobstructive symptoms. Recovery suggests that the functional adaptation of congenital and surgically-induced short small intestine may have the same quality. Neither anatomical (presence or absence of pyloric hypertrophy) nor clinical variants (obstructive and diarrheic forms) challenge the nosologic unicity of this syndrome, whose genetic character is unquestionable in most cases.
Authors report a very rare malformation of the external genital organs in a male new-born who died 48 hours after birth. This malformation consisted in a total aplasia of the corpus cavernosum and bulbus penis with a fusiforme dilatation of the anterior urethra. The malformation was associated with an anal imperforation, bilateral cryptorchidism and renal hypoplasia.
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