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Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far been mapped. However, mutations causing adRP have been identified only in four retina-specific genes: RHO (encoding rhodopsin) in approximately 20% of adRP families, peripherin/RDS (3-5% of adRP) and recently RP1 (Pierce et al., 1999, Sulivan et al., 1999) and NRL gene. Only one mutation in the NRL gene causing adRP has so far been reported (Bessant et al., 1999). Here we report a novel mutation Pro51Leu in an adRP Spanish family supporting that mutation in NRL is the cause of adRP. A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa. Hum Mutat 17:520, 2001.

We report two infertile brothers presenting with azoospermia and oligozoospermia. Cytogenetic studies using G-banding and FISH analysis on lymphocyte cultures revealed an autosomal balanced reciprocal translocation t(1;22)(q11;p11) in both males. The same translocation was found in their mother, but not in a third fertile brother and maternal uncle suggesting that this translocation might compromise the male but not the female gametogenesis in this family.

Objectives- Several attempts have been made to determine the gestational period in which the maximum number of fetal cells can be found in maternal blood and consequently which is the best week in which to perform a reliable non-invasive prenatal diagnosis. Most studies conclude that the number of nucleated red blood cells (NRBC) increases in line with gestation, but the number of cells that are fetal in origin (FNRBC) decreases in the third trimester. The aim of the present study was to make a practical comparative evaluation of the first and second trimesters to ascertain the period in which a greater number of FNRBC can be found of the total number of NRBC identified. Methods- Double density gradient and a posterior positive selection (CD71) by magnetic activated cell sorting (MACS) were employed. In the final fraction, erythroblasts were identified using Kleihauer staining and were studied using the fluorescence in situ hybridization (FISH) interphasic technique. Results- There was a significant difference (p0.05) between the mean number of FNRBC found in the first and second trimesters. Conclusions- The number of FNRBC increases from the first to the second trimester. It appears that the optimum week in which to perform a reliable non-invasive prenatal diagnosis is around the 15th week.

We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.

Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out.A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis.No mutation was found in any of the family members.Mutations in other genes may be involved in retinal dystrophies.

Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.

A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T--C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome 10 (p13;q22) pat. Although the presence of the same inversion in the father and in the apparently asymptomatic sister does rather suggest that the concurrence of the mitochondrial disease in the patient was due to chance, some alternative explanations to associate both events might be proposed.

We present clinical and cytogenetic studies of a female patient affected with choroideremia, mild sensorineural deafness, and primary amenorrhea showing a balanced translocation between chromosomes X and 4. The breakpoint was precisely defined applying FISH techniques: 46,X,t(X;4)(q21.2;p16.3).ish t(X;4)(D4S96+, D4F26+; wcpX+). The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. The presence of X-linked disorders in this balanced carrier of X-autosomal translocations (XAT) can be explained either by the disruption of the structural coding or regulatory sequences of the gene(s) or by the submicroscopic deletion of this region leading to a contiguous gene deletion syndrome. The primary ovarian failure (POF) found in the present case has been already observed in XAT when the breakpoint is within a previously defined critical region (Xq13-26). A position effect is postulated as a possible explanation.

Autosomal dominant retinitis pigmentosa (adRP) may be caused by point mutations in the rhodopsin gene in up to 20% of Spanish families. Most of the rhodopsin mutations causing adRP have been reported in the heterozygous state. We describe a patient with adRP who is homozygous for a missense mutation at codon 188 in the second intradiscal domain of rhodopsin. All her sons are heterozygous for the mutation and show an RP phenotype suggesting complete penetrance for this mutation. The homozygous carrier of the mutation Gly-188-Arg in the rhodopsin gene showed a later subjective onset of symptoms than the heterozygotes, suggesting that the photoreceptor degeneration induced by the mutation is not dramatically influenced by mutant allele dosage.

Small supernumerary marker chromosomes are seldom found in prenatal diagnosis and the majority of them are difficult to identify. The only possibility to give a more precise prognosis is by establishing its origin. FISH is the best technique to identify the chromosomal origin, but in the majority of cases large amounts of chromosomal material are needed and this is time consuming. We have used a modification of the FISH technique that allows the hybridization of several probes on one slide. Using this method, we have identified the first de novo mosaic dicentric supernumerary marker derived from chromosome 16 (smaller than chromosome 21) in amniotic fluid. The gestation and the follow-up of the baby were normal.

A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.

Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.

The aim of this randomized controlled trial was to assess the efficacy of interferon alfa-2b (IFN) for the treatment of advanced hepatocellular carcinoma (HCC). Fifty-eight patients with HCC who were not suitable for resection, transplantation, ethanol injection, or arterial embolization were stratified according to their Okuda stage and randomized to receive IFN (3 x 10(6), 3 times a week, for 1 year) (n = 30) or symptomatic treatment (n = 28). Both groups were identical in terms of age, sex, performance status, presence of constitutional syndrome, Child-Pugh class, Okuda stage, multinodularity, portal thrombosis, and extrahepatic spread. Adhesion to IFN treatment was adequate in 27 patients, with a mean duration of treatment of 8 +/- 3 months. However, IFN treatment was associated with side effects in 23 patients, leading to treatment discontinuation in 13 patients. Two of the 30 patients (6.6%) presented a partial response with greater than 50% size reduction and normalization of alpha-fetoprotein levels. The survival at 1 and 2 years according to intention to treat was not different between the 2 groups (58% and 38% vs. 36% and 12%, respectively, Breslow P =. 19, log rank P =.14) and the absence of difference was maintained when dividing patients according to their Okuda stage. The probability of presenting tumor progression (P =.17), or deterioration of Child-Pugh class (P =.37), performance status (P =. 07), or Okuda stage (P =.44) was not modified by IFN treatment. These results indicate that IFN is not properly tolerated in patients with cirrhosis and advanced HCC and that its administration prompts no benefit in terms of tumor progression rate and survival.

It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22--qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.

The potential use of fetal cells circulating in maternal blood for a non-invasive prenatal diagnosis has been widely described. Several authors have developed different methods for the enrichment of fetal cells from maternal peripheral blood. The aim of this study was to make a practical valuation of this new prenatal diagnosis technique, using those methods described as efficient and easy to carry out in a prenatal diagnosis unit. These methods consist of the double-density gradient and the positive selection by magnetic activated cell sorting (MACS) of the fetal erythroblasts, and the posterior study of the cells applying the FISH interphasic technique. Once the technique was ready, we obtained results from the study of 66 venous blood samples from women coming for prenatal diagnosis. Using a specific staining for fetal haemoglobin, fetal cells were identified in 63 cases. Fetal sex was well determined in 56 cases, 23 females and 33 males; in 7 cases the sex determination failed. All the aneuploidies found in a previous prenatal diagnosis were confirmed.

The Chediak Higashi Syndrome (CHS) is an inherited autosomic recessive immunodeficiency rarely reported. Two pediatric cases are presented, where the first approach to diagnosis was the laboratory report of giant granulation in granulocytes and lymphocytes, observed in peripheral blood smear. In order to confirm the diagnosis of CHS, immunologic tests, skin biopsy, bone marrow aspirate and microscopic hair examination were performed. It is remarked the importance of the careful examination of the blood smear in the detection of this cases, whereas clinic manifestations are not relevant until the hematologic suspicious of the syndrome is evident. The early detection of these patients can lead to bone marrow transplant, which is the only curative treatment to this disorder, lethal in the first decade of life.

Tumoral recurrence rate and survival of patients with hepatocellular carcinoma (HCC) treated by orthotopic liver transplantation (OLT) depend on tumor stage. Thereby, from the beginning of our program, we selected only patients with solitary tumorsor = 5 cm without vascular invasion, thus avoiding the use of the tumor-node-metastasis (TNM) staging system as a selection tool. The present study reports the results obtained in 58 consecutive patients (52 +/- 8 years, 47 males) with HCC (7 incidentals) transplanted between 1989 and 1995. Transplantation was indicated because of tumor diagnosis in 40 cases and advanced liver failure in 18. Mean tumor size at staging was 28.2 +/- 12.1 mm. No adjuvant treatment was applied during the waiting period (58.9 +/- 45.1 days). The pathological tumor-node-metastasis (pTNM) classification allocated 15 patients to stage I, 19 to stage II, 11 to stage IIIA, and 13 to stage IVA showing preoperative understaging in 43% of the cases with known tumor. After a median follow up of 31 months, only two patients have shown tumor recurrence and fifteen have died, the 1-, 3-, and 5-year survival being 84%, 74%, and 74%. All HCV+ patients remain infected and 94% showed significant liver disease (6 cirrhosis). Six patients have had a second transplant. In conclusion, the application of restrictive criteria not following the TNM staging system prompts excellent results for liver transplantation in patients with HCC, both in terms of survival and disease recurrence, even without applying adjuvant treatment; however, the survival data should be tempered by the appearance of complications that may worsen the long-term prognosis.

This randomized, controlled trial assessed the effect of transarterial embolization (TAE) (without associated chemotherapy) on the survival of patients with nonsurgical hepatocellular carcinoma (HCC). Eighty consecutive patients were randomized to treatment with embolization (Group A, n = 40), or to symptomatic treatment (Group B, n = 40), there being no differences between both groups regarding the degree of liver function impairment and tumor stage. Eighty-two percent of the patients presented a self-limited postembolization syndrome, without treatment-related mortality. Fifty-five percent of the treated cases exhibited a partial response, which resulted in a lower probability of tumor progression during follow-up (57% vs. 77% at 1 year; P.005). However, after a median follow-up of 24 months (30 deaths in each group), there are no differences in survival (Group A: 49% and 13%; Group B: 50% and 27%, at 2 and 4 years, respectively; P = .72). The absence of differences was maintained even when dividing patients according to Child-Pugh's grade, Okuda stage, or performance status test (PST). Furthermore, there were no differences in the probability of complications or in the need of hospital admissions. In conclusion, TAE has a marked antitumoral effect associated to a slower growth of the tumor, but it does not improve the survival of patients with nonsurgical HCC.

A gene for juvenile onset, open angle glaucoma (JOAG) has been localized to chromosome 1q21-31 in several families. Mutations in the trabecular meshwork-induced glucocorticoid response protein (TIGR) gene, which maps to this region, recently have been found in families segregating both JOAG and a later onset form of primary open angle glaucoma (POAG). We have analysed the TIGR gene in two families; one Spanish family segregating autosomal dominant JOAG and an Irish family with a later onset form of autosomal dominant POAG. We have found a G-T transversion in the first base of codon 426 in all affected members of the Spanish family, which results in a valine to phenylalanine amino acid substitution. We have also found a G-A transition at the first base of codon 367 that segregates through all but one branch of the Irish family and results in a glycine to arginine amino acid substitution. Members of this family that carry the Gly367Arg change also share a common haplotype that is neither present in any of the unaffected members of the family, nor in the branch that does not segregate the mutation. Identification of further mutations in the TIGR gene increases its importance in the etiology of open angle glaucoma.

The authors report two new rare DNA sequence variants in the Rhodopsin gene. This gene is involved in the pathogenesis of some retinal hereditary disorders as Retinitis Pigmentosa. These rare variants are G-->A at nucleotide 721 of the non-coding region and C-->T at nucleotide 5200 within codon 323 which does not alter the aminoacid cysteine. Therefore, they are not implicated in the development of the Retinitis Pigmentosa disease.

The Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with abnormalities in the chromosomal region 15q11-13 of paternal origin. Most cases (65-85%) have a deletion involving the paternally derived chromosome and the remainder (20-25%) have a maternal uniparental disomy. Some patients have a defect in the imprinting process. We report the results of molecular, cytogenetic and clinical studies on 10 PWS patients.18 suspected patients were classified as PWS typical or not typical as they fulfilled or not the clinical criteria for PWS. Cytogenic studies-high resolution chromosome banding analyses (HRGTG) and fluorescence in situ hybridization (FISH) -and molecular chromosome genetic analyses--microsatellite markers and Southern blotting--were carried out from peripheral blood lymphocytes.PWS was confirmed in 10 probands. 8 fulfilled the clinical criteria for PWS and showed cytogenetic and/or molecular abnormalities. In 2 patients without clinical or cytogenetic data, diagnosis was confirmed by molecular methods only. Cytogenetic and molecular findings describe a characteristic clinical picture of PWS.Cytogenetic techniques (FISH and HRGTG) confirmed PWS diagnosis in 40% of cases, microsatellite studies in 70% of them and Southern blotting (the metilation test) in 100% cases. Southern blotting is the method of choice for rapid diagnostic testing of patients suspected of having PWS.

BACKGROUND: High resolution computed tomography (HRCT) is now recognised as a sensitive tool for predicting the histological characteristics of the lung parenchymal abnormalities in patients with idiopathic pulmonary fibrosis (IPF). A reticular pattern on HRCT scanning is indicative of fibrotic histology while a ground glass pattern has been associated with inflammatory disease. The purpose of the present study was to investigate whether the cell population in the bronchoalveolar lavage (BAL) fluid from different lobes differs according to HRCT characteristics in patients with IPF. METHODS: Twenty six patients with IPF (18 men) of mean (SE) age 67 (2) years were included in the study. A semiquantitative analysis of the extent of the abnormalities on the HRCT scan was applied by summing the proportion of both reticular and ground glass patterns in each lobe (expressed as percentage of total area evaluated) and 100 ml double BAL was then randomly performed in the lobe with the most extensive involvement (lobe A) and that with the least extensive involvement (lobe B). RESULTS: Twenty three of the 26 patients (88%) had an abnormal cell count in the BAL fluid from lobe A compared with 18 patients (69%) with abnormalities in the BAL fluid from lobe B. The median (range) percentage of 8.5% (0-34%) and the absolute numbers of neutrophils (1.3 x 10(4)/ml, 0-14.6 x 10(4)/ml) in lobe A were significantly higher than those in lobe B (5% (0-26%) and 1.2 x 10(4)/ml (0-5 x 10(4)/ml), respectively). The percentage (3%, 0-19%) and absolute numbers (0.65 x 10(4)/ml, 0-4 x 10(4)/ml (0-4.8 x 10(4)/ml), respectively). For the group as a whole a correlation was found between the percentage and absolute numbers of neutrophils in the BAL fluid and the total score of abnormalities on the HRCT scan in the most involved lobe (lobe A). Multiple regression analysis indicated that both the percentage and absolute numbers of neutrophils were significantly and independently related to the extent of ground glass pattern. CONCLUSIONS: In patients with IPF the cell population in the BAL fluid is not homogeneous and seems to be related to the characteristics of the abnormalities on the HRCT scan present in the lavaged lobe.

Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epidemiological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non-syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20/89 families = 30%) and Usher syndrome type 2 (44 families = 49%). Among non-syndromic RP forms, 12% were autosomal dominant, 39% autosomal recessive and 4% X-linked. Forty-one percent were isolated or simplex cases and in 4% the genetic type could not be established.

The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.

Our uncontrolled phase II study was aimed at assessing the efficacy of transarterial embolization in patients with hepatocellular carcinoma and to determine the parameters associated with a favorable response to treatment, improved survival or both. Fifty consecutive patients (25 corresponding to Okuda's stage I and 25 to stage II) with hepatocellular carcinoma (41 being multinodular or massive) were included. Transarterial embolization induced a self limited postembolization syndrome that was well tolerated. Nevertheless, three patients died shortly after the procedure because of tumor progression (two cases) or progressive liver failure. A favorable response (extensive necrosis with reduction of tumor area greater than 50%) was achieved in 81% of the cases, and this result was independently (p0.05) related to a preserved performance status and to a lower alpha-fetoprotein concentration. The survival of the patients at 1 and 2 yr was 65% and 38%, respectively, better than the expected survival according to a mathematical model obtained from a historical series of untreated cases (42% and 20%, respectively). Cox regression analysis disclosed that both a favorable therapeutic response and a preserved physical condition (reflected by performance status of 0 or 1) were independently associated with better survival (regression coefficient -2.248 and 0.869, respectively). These data indicate that transarterial embolization has a marked antitumoral effect in patients with inoperable hepatocellular carcinoma and that the therapeutic success is associated with improved survival. Nevertheless, because the potential benefit for survival observed in this uncontrolled study appears to be moderate, prospective controlled trials to ascertain the real usefulness of this therapeutic approach are mandatory.

We have studied 77 patients from 38 families with Huntington's disease (HD) analyzing the genes trinucleotide repeats (CAG)n; we have compared the results with those of 154 chromosomes from control population. Patients with HD range from 39 to 70 repeats while healthy patients have between 12 and 36 repeats. These results show the great feasibility of this genetic test. We do not have found a correlation between expansion's repeats and age of onset except for young people with the disease; in these cases we have found high level of expansions (more than 65) that could be a prognostic parameter of the disease.

The contribution of a locus to the genotypic variance depends not only on the effects of its genes but also on their frequency and on the genetic background in which it segregates. In two synthetic populations, involving common cultivars of our collection, estimates were made of the contributions of alleles at the homoeologous high-molecular-weight glutenin (HMW) loci, Glu-A1, Glu-B1, and Glu-D1, to the variation in flour quality using SDS sedimentation as an index. These estimates were of the magnitude of the contributions relative to each other, relative to the residual genetic variance, and relative to the environmental variance. The first population was a synthetic formed from ten bread-wheat cultivars known for their good quality, and selected under forced random mating for high SDS sedimentation. The second was the selfed progeny of a cross of Ribereño, a very poor quality bread-wheat of genotype (Null, 7-8,2-12), with line 7681, a very good quality bread-wheat with the genotype (2*, 7-9, 5-10). Slightly over one-half of the phenotypic variance is under genetic control and over one-half of this was accounted for by HMW contributions. The initial response to selection was very rapid, as is expected when genes with large effects are involved. In addition, the frequencies of good HMW alleles increased so quickly that their contribution to the genetic variance was exhausted by the fourth generation of selection. If our estimates are correct, over one-half of the maximum possible advance in quality in heterogeneous populations similar to ours can easily be achieved in 2 years, or less, of marker-assisted selection. © 1993 Springer-Verlag.

or thrombosis at any location occurred at later time points: beyond 90 days in all but 1 pt [median 306 days (37–607)]. M edian time to cardiac arrhythmia events was 43 days (11–530). The severity of CAE was mild (grade I/II) in 89 %. In 10 cases the emergence of CAE prompted treatment discontinuation. Conclusion: These data validate the efficacy and safety of pivotal trials and confirm that AHT is the most frequent, but easily manageable AE. Peripheral vascular events emerge beyond 90 days of therapy and hence, have to be intentionally screened to allow early detection and management.

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.

The localized form of Castleman disease is rare and of unknown origin. Pelvic location of the disease is unusual. We report the CT and MR appearance of a case of pelvic Castleman disease presenting with characteristic calcifications and hypervascularity.

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 have studied six Spanish families with at least one affected member with Huntington's disease, using RFLPs from probes linked to the gene. Our results suggest a genetic homogeneity in our population and show a 100% of informativity with the probes and enzymes used.