Biomedical subjects
Publications and source records attributed to A Sánchez Cascos.
This cytogenetic study deals with a family in which some members are carriers of 15p+ polymorphism variant, with an unusually elongated short arm. The chromosomal marker segregates in three generations, duplicating its length but without phenotypic manifestation in the carriers. An analysis by using banding techniques shows us the characteristics of the p+ region and its transmission within the family.
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Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.
Authors has studied association between cardiac and sternal anomalies, in a series of 2,000 cases of congenital heart disease. He finds an incidence of pectus excavatum of 2.5% and pectus carinatum of 3%. Associative differences were highlysignificant, mainly that between Fallot tetralogy and pectus carinatum. Possible mechanisms responsible for those associations are discussed.
The intensity and degree of familial association in a series of congenital heart diseases has provided 204 cases of familial malformation recurrence. There was total concordance for 27% of first degree relatives, 18.5% of those of second degree, and 9% of third degree; partial concordance was present in 15, 18 and 41%; system concordance in 27, 44, and 43%; total discordance in 31, 18.5, and 5%. Anencephaly, hydrocephaly, cleft lip-palate, pyloric stenosis, and cryptorchidism were repeatedly present with a highly significant incidence.
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Chromosome studies were performed on a plexiform neurofibroma arising in a probable von Recklinghausen's disease patient, who also showed a de novo constitutional reciprocal translocation, t(1;22)(p32;q11). Banding analysis of the metaphases obtained from two primary cultures in vitro showed the presence of five cytogenetic clones, characterized by different chromosomal rearrangements. In addition to t(1;22), marker chromosomes involved pairs 1, 2, 3, 5, 8, 9, 10, 12, 16, and X. These findings suggest a possible polyclonal evolution in this neurofibroma.
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Authors report a boy with Prune Belly syndrome, presenting also other malformations (cardiac, encephalic, facial, plus subnormality). He presents a familial inversion of chromosome 9, and also extra material in chromosome 20 (20 p+).
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Authors present a case of anencephaly with trisomy 18, diagnosed prenatally by altrasonographic screening and culture of amniotic cells. This association is rare in newborn children. They discuss if this is due to a high prenatal letality or a random event.
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We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.