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Córdoba, Argentina

Salinas-Torres V.M.,Servicio de Genetica Medica | Salinas-Torres V.M.,University of Guadalajara | Ramos-Marquez C.M.E.,University of Guadalajara | Serra-Ruiz L.,Servicio de Neonatologia | Angulo-Castellanos E.,University of Guadalajara
Archivos Argentinos de Pediatria | Year: 2012

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype. Source

De Rosa M.L.G.,Servicio de Genetica Medica | Fano V.,Servicio de Crecimiento y Desarrollo | Araoz H.V.,Servicio de Genetica Medica | Chertkoff L.,Servicio de Genetica Medica | Obregon M.G.,Servicio de Genetica Medica
American Journal of Medical Genetics, Part A | Year: 2014

We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH. © 2014 Wiley Periodicals, Inc. Source

Walter Soria N.,Catholic University of Cordoba | Walter Soria N.,Laboratorio Of Analisis Clinicos Especializados | Galvan C.,Catholic University of Cordoba | Galvan C.,Laboratorio Of Analisis Clinicos Especializados | And 2 more authors.
Genetic Testing and Molecular Biomarkers | Year: 2010

Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in CES sequences could lead to variability in both the inactivation of drugs and the activation of prodrugs. The human CES1 gene encodes for the enzyme carboxylesterase 1, a serine esterase governing both metabolic deactivation and activation of numerous therapeutic agents. Some of theses drugs are the antiviral oseltamivir used to treat some types of influenza infections and the methylphenidate employed in the treatment of patients with attention deficit. The Gly143Glu polymorphism in CES1 gene has been shown to reduce enzyme activity. The aim of the present study was to develop an easy and cheap method to detect this polymorphism. For this, we studied a group of people from Córdoba, a Mediterranean area from Argentina. Our results show that our methodology could detect the presence of this polymorphism with a frequency around 1.8%, only in the heterozygote form. These results could be relevant to patients before the treatment with some drugs where the CES1 enzyme is involved. © 2010, Mary Ann Liebert, Inc. Source

Canonero I.,Servicio de Genetica Medica | Canonero I.,Catholic University of Cordoba | Montes C.,Servicio de Genetica Medica | Montes C.,Catholic University of Cordoba | And 8 more authors.
Archivos Argentinos de Pediatria | Year: 2012

Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case described in conjoined twins. We analyzed the perinatal history, psychomotor behavior, language, and the presence of minor dysmorphism. Karyotypes and in situ hibridization (FISH) for critical region 22q13.3 were performed to all patients. There were hypotonia, developmental delay, and delay or absence of language. A 22q13.3 deletion was detected in all patients described, two cases had a deletion and the other three had a ring of chromosome 22, one in a pure cell line, while the twins presented mosaicism. Karyotype and FISH for 22q11.2 critical region should be performed, with 22q13.3 control probe to detect the deletion of Phelan McDermid syndrome in all patients with clinical phenotype suggestive and evocative of velo-cardio-facial syndrome. Source

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