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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2010; Serie V Nº 9 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2010; Serie V Nº 9

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9

Síndrome de Coffi n-Lowry: Presentación de un caso y Guías Diagnóstico-evolutivas y Anticipatorias 

Coffi n-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor delay and growth retardation, large soft hands with distally tapering fi ngers, and other skeletal anomalies. Characteristic features change and become more mark...

Síndrome de Desorganización: Características y descripción del primer caso registrado en el ECEMC. 

The mouse mutant disorganization (Ds) is an autosomal dominant gene which is lethal in homozygosis, with complete penetrance in heterozygosis. Its expression exhibits an exceptional variety of unusual developmental anomalies in structures derived from various germ layers. Several patients with si...

Fosa nasal supernumeraria, una extraña malformación congénita. Primer caso registrado por el ECEMC 

Supernumerary or accessory nostrils are a very rare type of congenital nasal anomaly, with only a few cases reported in the literature. They can be associated with other malformations such as cleft palate and they can be unilateral or bilateral, with most cases reported being unilateral. The acce...

Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos 

Here it is presented the analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2009. Among a total of 2,561,162 newborns surveyed, 38,503 (1.50%) had congenital defects detect...

¿Qué hay en el ADN no codifi cante? 

More than 95% of our DNA is non-coding. This does not mean that 98% of the genome has no role at all, on the contrary. But, what is it there for? Part of this DNA contains cis-regulatory sequences that control when, where and how much a gene is transcribed. Cis-regulatory sequences can activate (...

¿Qué son los Microarrays? Aplicación al diagnóstico de anomalías congénitas. 

Arrays are made up of small fragments of DNA from known locations within each chromosome, and labelled probes that bind covalently to a silica or glass surface in a specifi c position (hence the name in silico). Both the sequence and genomic position of each probe are recorded in a database assoc...

Análisis clínico-epidemiológico de las niñas recién nacidas con síndrome de Turner y de aquellas con tres cromosomas X 

As far as we know, this article represents the fi rst epidemiological analysis of two series of consecutive newborn infants who presented with monosomy X or three X chromosomes, using data from ECEMC’s case-control study. For this analysis, four groups of newborn girls were used: infants with 45,...

Informe de Vigilancia Epidemiológica de anomalías congénitas en España: Datos registrados por el ECEMC en el período 1980-2009 

This report is delivered annually by ECEMC (Spanish Collaborative Study of Congenital Malformations), a research programme on congenital anomalies, based on data from its ongoing, hospital-based, case-control registry of newborn infants in Spain. It has surveyed more than 2.7 million births, and ...

Consumo de Cafeína en el Embarazo en Nuestro Medio y Riesgo para el Desarrollo Embrionario/Fetal 

Caffeine is the most used psychoactive substance in the world. The objectives of this work are to study the consumption of caffeine during gestation in our country and its impact on weight, height and head circumference of newborns and analyze the risk for congenital malformations in the exposed ...

Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2009. Análisis de la utilización del SITTE por los distintos especialistas médicos 

During 2009, SITTE (aimed at the health professionals) received 889 calls and SITE (intended for the general population) received 4,008. Inquires about medication are the most frequent reasons for consulting both these services. What stands out is the high number of inquiries for psychoanaleptic ...