Biomedical subjects
Publications and source records attributed to R Saura.
An infant was found to have a de novo complex rearrangement of one chromosome 4. Her karyotype was interpreted as 46,XX,inv del(4)(pter::p16.3::q31.2----p15.2::q31.2----qter). Clinically she showed the features of the Wolf-Hirschhorn syndrome.
The authors report a preliminary study of chromosomal analysis made on chorionic villosities. The samples were taken by means of biopsy forceps. The "direct" method was used to determine the karyotype. Since then two diagnoses have been made on progressive pregnancies.
Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
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A patient is reported, carrier of a double aneuploidy (trisomy 21 and XXY) associated with a pericentric inversion 22 inherited from the mother. The role of this structural rearrangement at the origin of the double aneuploidy is discussed.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
OBJECTIVE: To investigate whether the placental expression of P-glycoprotein shows a quantitative difference during pregnancy. STUDY DESIGN: Villous tissue was collected from chorionic villus samples (13-14 weeks of gestation; n = 3 and 20-25 weeks of gestation; n = 4) and from full-term placentas (38-41 weeks of gestation; n = 28). P-glycoprotein was detected by western blot analysis and quantified by densitometry. RESULTS: We showed for the first time a significant and progressive two-fold decrease in the mean expression of P-glycoprotein between early and late samples, with a major overlap of values. CONCLUSION: As P-glycoprotein appears to be involved in drug extrusion, these data suggest that the placenta's ability to protect the fetus from xenobiotics is greater in early pregnancy than at term.
OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with either NT > or =3 mm or cystic hygroma. RESULTS: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. CONCLUSION: Measurement of NT at 12 weeks' gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks' gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.
During a 4-year period, 29 fetal nuchal edemas were observed, associated with other ultrasound abnormalities in 7 cases (24%). Fetal karyotypes were abnormal in 10 cases: 6 trisomy 21; 3 trisomy 18, and 1 Turner's syndrome. Isolated fetal nuchal edema was associated with aneuploidy in 4 cases: 3 trisomy 21, and 1 trisomy 18. The average age of the women carrying a fetus with nuchal edema associated or not with a trisomy 21 was 38.3 and 30.8 years, respectively. These results are similar to those found in the literature. It would appear that maternal age is a better marker in trisomy 21 screening than isolated fetal nuchal edema.