Search PubMed⌕ Search

Biomedical subjects

G Pescia

Publications and source records attributed to G Pescia.

At least 55 records · Page 3Linked to original sources
PubMed1992

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.

Penetrance and segregation rates of mutant Rb-1 alleles were assessed in all 51 members of eight kindreds with hereditary retinoblastoma by concomitant ophthalmologic examination and determination of seven intragenic restriction fragment length polymorphisms (RFLPs). Penetrance was in the range reported in the literature except for one family in which it was only 42.8%. However, the odds of transmitting a mutant Rb-1 allele from one generation to the next were 25:9 in this population, much above the Mendelian 1:1 ratio (P less than 0.025). This preferential transmission was discovered through the use of molecular information. Further analysis revealed that this distortion was due to preferential inheritance among children of male carriers (18:4, P less than 0.005). No difference from a 1:1 segregation ratio could be detected among the children of female carriers (7:5). These findings were consistent with a review of relevant data in the literature.

Alleles↗
PubMed1992

[Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome].

Concerned by 2 cases of a recurring multiple fetal malformation syndrome in a consanguineous couple, the authors present the ultrasonic, clinical and paraclinical data that, when introduced into a computerised prenatal diagnostic programme, suggest a Meckel-Gruber or Carpenter-Hunter syndrome. The discovery of single or multiple fetal malformations requires not only complete echographic assessment, but also detailed post-abortum examination to allow optimal use of diagnostic aid programmes.

Abnormalities, Multiple↗
PubMed1991

[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].

Activity and phenotype of red blood cell esterase D were systematically determined in a population of 128 retinoblastoma patients from 99 families and compared to 158 controls, in order to detect a chromosome 13q14 deletion. Among these patients 12 were healthy carriers and 116 affected carriers of a mutant allele of the retinoblastoma susceptibility gene (110 retinoblastoma, 5 retinoma, 1 phtisis bulbi). 4 patients were found to have decreased ESD levels in connection with 13q14 deletion which was confirmed by chromosome analysis. The data presented here suggest that ESD quantification has a high specificity and sensitivity for the detection of homogenous chromosome 13 deletions in retinoblastoma patients.

Carboxylesterase↗
PubMed1989

Constitutional karyotype in retinoblastoma. Case report and review of literature.

High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.

Carboxylesterase↗
PubMed1989

[Thoracopagus fetus. Ultrasonic diagnosis at 16 weeks].

This paper reports the ultrasound diagnosis at 16 weeks' gestation of thoracopagus conjoined twins. Ultrasound examination showed the two fetuses conjoined at the sternum, with a single heart and a single liver. After informing the couple of the extremely poor prognosis, medical termination of pregnancy was requested. Pathologic examination of the conjoined female fetuses revealed a single, non-duplicated heart, two livers connected at the right lobe, completely separate bile ducts and digestive tract, and a single placenta and umbilical cord containing two arteries and six veins. The karyotype was normal. Diagnostic ultrasound criteria for thoracopagus conjoined twins include: the relative position of the two fetuses facing each other, hyperextension of the cervical spine, continuity of the skin and mirror image body parts with limbs close together. The presence of a single heart, liver and umbilical cord, all of increased size, confirms the diagnosis. Various degrees of fetal fusion result from incomplete division of the inner cell mass 13 to 15 days after fertilization. Although the precise causes are unknown, many workers believe that the factors responsible for monozygosity may also play a role in conjoined twins. In Switzerland, 1% of all live births are twins with approximately 1/4 of these monozygotic. If incomplete division of the inner cell mass occurs in 1% of these cases, the estimated incidence of conjoined twins is 1/40000 births. Although thoracopagus twins are more frequent, omphalopagus twins are more commonly encountered at birth, due to lower fetal mortality. The overall prognosis depends on the degree of organ sharing between fetuses. Very few surgically separated thoracopagus conjoined twins have lived and those who did survive had separate hearts. Also, conjoined twins can cause dystocia with the risk of rupture of the uterus, and often require cesarean section which may have negative consequences for the obstetrical future of the mother. However, an early ultrasound diagnostic can modify prognosis and allow medical termination of pregnancy in the case of seriously malformed thoracopagus conjoined twins. The risk that the condition recurs in a subsequent pregnancy may be considered negligible.

Abnormalities, Severe Teratoid↗
PubMed1988

[Retinoblastoma and pseudoretinoblastoma: diagnostic study].

Between 1963 and 1987 admitted Lausanne University Eye Hospital 140 infants with suspected retinoblastoma. Of these, 98 (70%) were subsequently confirmed cases, while 42 (30%) were found to be suffering from a benign disorder. Among these pseudoretinoblastomas, Coats' disease was found to be the most prevalent (21%) in this study. The examination procedure is discussed and the importance of genetic research is emphasized.

Child↗
PubMed1988

Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results.

In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.

Chorionic Villi↗