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Biomedical subjects

F Asensi

Publications and source records attributed to F Asensi.

28 records · Page 2Linked to original sources
PubMed1980

Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.

Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA-and GTG-banding, are presented along with a complete study of both families. In the second case a 3 : 1 segregation is associated with an unbalanced 2 : 2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.

Abnormalities, Multiple↗
PubMed1978

10p- syndrome associated with multiple chromosomal abnormalities.

A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.

Child↗
PubMedDate not supplied

Meteorotropism of seizures in children from birth to seven years (author's transl).

Between Oct. 1st 1971 and Sept. 30th 1976, 2,901 cases of seizures in children under 7 years of age have been treated in the Emergency Service of "La Fe" Children's Hospital of Valencia. On this basis, we have tried to demonstrate the presence of "runs" of such seizure cases, which were thought to exist. We have also studied the relationship between the seizure frequency and the atmospheric pressure. The yearly and monthly seizure distributions don't show statistically any significant difference. Neither do week-days or periods of the day. Mathematic study hasn't shown non-periodic "runs" either of the seizure cases within the total amount of emergency cases, or of the days with an admission rate of three or more seizure cases within all the days with the study period. Statistical studies comparing the seizure frequency with the mean atmospheric pressure in the daily intervals from 8.00 to 14.00, from 14.00 to 19.00 and from 19.00 to 8.00 of the following day, and with the respective barometric gradient, show that there aren't any correlations. Neither is there any correlation between seizure frequency and daily maximum barometric gradient. However it is demonstrated that in extremely low atmospheric pressures (under 1001.9 milibar) the seizure frequency is higher. A bibliographical review on meteorotropism of convulsions is made.

Atmospheric Pressure↗