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We have analyzed the CPK levels in 44 carriers of DMD women, previously diagnosed by using molecular techniques (from a risk population of 133 women), and compare them with the CPK levels of 138 women of a control population. The results obtained show that values higher than the normal level (> 250 mU/ml) are compatible compatible in 99% of the cases with the carrier status (21 women of the carrier population and 1 women of the control population showed values higher than 250 mU/ml). On the other hand, normal values do not distinguish between the healthy and carrier populations (22 women of the carrier population showed normal CPK levels). These results can be very useful in genetic counselling, especially in centers where it is not possible to apply recombinant-DNA techniques.

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.

We report a case of familiar retinoblastoma, in which both mother and daughter show bilateral retinoblastoma. The cytogenetic study, in both peripheral blood lymphocytes and tumoral tissue did not show alterations on the 13 chromosome, although we found a complex kariotype in tumoral tissue defined by three celular lines. In all of them appears a marker in which the 6 chromosome is involved (der 6). The derivated of 6 chromosome are markers highly characteristic of the retinoblastoma cases, and can be related with the aggressivity of tumor and the appearance of the second tumors.

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 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.

Authors report cytogenetic findings in 34 alive newborns presenting congenital malformations in the first week (Group A). These findings have been tested with Group B (100 malformated children up to 12 years old) and Group C (1,000 hospital patients of any age). Chromosomic anomalies in 44, 22 and 15% of the groups respectively are found. Performance of kariotype in any newborn with congenital malformations for detection of chromosomic aberrations or familial translocations in disbalance is needed.