Prenatal

The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe and rare developmental disorder, which is inherited as an X-linked dominant trait with male lethality. In the vast majority of patients, this syndrome is associated with terminal deletion of the Xp22.3 region. Thirty-five cases have been described to date in the literature since the first description of the syndrome in the early 1990s. We now report on the clinical, cytogenetic, and molecular characterization of 11 patients, 7 of whom have not been described previously. Seven of these patients have chromosomal abnormalities of the short arm of the X-chromosome, which were characterized and defined by fluorescence in situ hybridization (FISH) analysis. Intriguingly, one of the patients displays an interstitial Xp22.3 deletion, which to the best of our knowledge is the first reported for this condition. Finally we report on the identification and molecular characterization of four cases with clinical features of MLS but apparently normal karyotypes, verified by FISH analysis using genomic clones spanning the MLS minimal critical region, and with genome-wide analysis using a 1 Mb resolution BAC microarray. These patients made it possible to undertake mutation screening of candidate genes and may prove critical for the identification of the gene responsible for this challenging and intriguing genetic disease. © 2005 Wiley-Liss, Inc.

We report a 16-week-gestation foetus obtained by voluntary abortion after prenatal diagnosis, in which a ring chromosome 22 was observed with deletion of the 22q13.3 region. A prenatal study of the amniotic fluid by standard chromosome technique with G bands and FISH (fluorescence in situ hybridisation) was performed. After the abortion, the anatomopathological study of the obtained foetus was carried out. Morphological and histological analysis of the foetus did not reveal severe physical abnormalities, although alterations of the nervous system were observed consisting of corpus callosum, fornix and septum pellucidum agenesia. It could be that the genes in this region that were involved in the development of the central nervous system were responsible for the alterations found in the morphological study. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region. Copyright © 2004 John Wiley & Sons, Ltd.

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.

ObjectiveTo assess the value of both cytomegalovirus (CMV) DNA quantification in amniotic fluid (AF) and CMV glycoprotein B (gB) genotype as prognostic factors in CMV congenital infection.To assess the value of both cytomegalovirus (CMV) DNA quantification in amniotic fluid (AF) and CMV glycoprotein B (gB) genotype as prognostic factors in CMV congenital infection.MethodsQuantification of CMV DNA was performed prospectively by real-time PCR and gB genotypes were analysed by gene sequencing analysis in the amniotic fluid of 42 fetuses infected by CMV. These were correlated with clinical data on fetal anomalies and outcome.Quantification of CMV DNA was performed prospectively by real-time PCR and gB genotypes were analysed by gene sequencing analysis in the amniotic fluid of 42 fetuses infected by CMV. These were correlated with clinical data on fetal anomalies and outcome.ResultsThe proportion of severely symptomatic fetuses was similar in each gB genotype group. Median CMV DNA load was higher in the group of symptomatic fetuses but this difference was not significant and high and low viral loads were found in both groups.The proportion of severely symptomatic fetuses was similar in each gB genotype group. Median CMV DNA load was higher in the group of symptomatic fetuses but this difference was not significant and high and low viral loads were found in both groups.ConclusionNeither gB genotype nor CMV DNA load in AF correlate with the severity of CMV congenital infection and these markers are unlikely to prove useful for the management of congenital infection. Copyright © 2004 John Wiley & Sons, Ltd.Neither gB genotype nor CMV DNA load in AF correlate with the severity of CMV congenital infection and these markers are unlikely to prove useful for the management of congenital infection. Copyright © 2004 John Wiley & Sons, Ltd.