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Silvia Castillo Taucher

Publications and source records attributed to Silvia Castillo Taucher.

6 recordsLinked to original sources
PubMed2005

[Maternal age and neural tube defects: evidence for a greater effect in spina bifida than in anencephaly].

BACKGROUND: Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida. AIM: To study the influence of maternal age on the risk for neural tube defects. MATERIAL AND METHODS: A meta-analysis of published data on neural tube defects (NTDs) was carried out to determine whether there is an increased risk to have a child with NTDs for younger and older mothers and if this risk differs depending on the type of NTD. All data available with information regarding the frequency of live births and NTDs cases by maternal age (five- or ten-year intervals) were included in the analysis. Effect sizes calculations were performed. RESULTS: The analysis supports the hypothesis that there is an increased risk of having an offspring with NTDs for mothers 40 years of age or older. However, this effect is stronger for spina bifida than for anencephaly. There is also evidence that mothers 19 years old or younger have a higher risk for having a child with spina bifida. CONCLUSIONS: Maternal age influences the risk of having an offspring with neural tube defects.

Adolescent↗
PubMed2004

Genetic services in Chile.

Demographic changes in Chile have positioned congenital malformations as a major cause of infant morbidity and mortality. At the same time, medical genetics has become increasingly important in relation to the diagnosis and management of individuals with birth defects and hereditary conditions as well as in the study of pathological pregnancies and reproductive problems. In addition, recent advances in genomic research are expanding the relevance of medical genetics to medicine as a whole. This article reviews the clinical genetic resources currently available in Chile; the teaching of genetics in undergraduate, graduate, and continued medical education; some relevant interventions that have taken place in our country, e.g. the expansion of the newborn screening program and the initiation of a folic acid fortification program, and recent efforts to enhance population access to clinical genetics services.

Chile↗
PubMed2004

[Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate].

BACKGROUND: Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate. AIM: To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate. PATIENTS AND METHODS: We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR. RESULTS: Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population. CONCLUSIONS: Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene.

Chile↗
PubMed2003

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.

Abnormalities, Multiple↗
PubMed2002

[Multiple FISH and multiple BAND: Application of cytogenetic and molecular techniques in 5 cases].

The techniques of multiple FISH (M-FISH) or fluorescence in situ hybridization with different color assignment for all and each of the human chromosomes, and multiple BAND (M-BAND) or hybridization with different color assignment for each chromosomal band, allow the identification of some alterations that would not be possible to distinguish with classical banding techniques, like the origin of the chromosomal material that constitutes a (non identifiable) marker chromosome or confirming the constitution of the multiple and simultaneous aberrations that occur in cancer cells. We communicate five complex cytogenetic cases that benefited by the employment of this diagnostic strategy, allowing to corroborate or reformulate a previous given conclusion.

Adult↗