RESUMEN
Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.
Asunto(s)
Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/fisiopatología , Proteínas del Tejido Nervioso/genética , Niño , Preescolar , Proteína de Unión a Elemento de Respuesta al AMP Cíclico , Electromiografía/métodos , Humanos , Lactante , Recién Nacido , Fenotipo , Proteínas de Unión al ARN , Proteínas del Complejo SMN , Índice de Severidad de la EnfermedadRESUMEN
We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.
Asunto(s)
Aberraciones Cromosómicas/diagnóstico , Cromosomas Humanos Par 13 , Trisomía/genética , Aberraciones Cromosómicas/genética , Bandeo Cromosómico , Trastornos de los Cromosomas , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Masculino , Fenotipo , Síndrome , Trisomía/diagnósticoAsunto(s)
Pruebas Genéticas , Comportamiento del Consumidor , Croacia , Atención a la Salud/economía , Pruebas Genéticas/legislación & jurisprudencia , Pruebas Genéticas/organización & administración , Pruebas Genéticas/tendencias , Genética Médica/educación , Genética Médica/legislación & jurisprudencia , Genética Médica/organización & administración , Genética Médica/tendencias , Instituciones de Salud , Servicios de Salud/economía , Accesibilidad a los Servicios de Salud , Humanos , Mortalidad Infantil , Recién Nacido , Servicios de Información , Esperanza de Vida , Evaluación de Resultado en la Atención de Salud , Linaje , Atención Primaria de Salud , Recursos HumanosRESUMEN
A one-year-old boy with focal dermal hypoplasia (Goltz syndrome) is reported in this paper. Numerous malformations (coloboma of the iris, syndactylia, pyelon and urether duplex 1. sin, cystouretheral reflux, hypospadia), typical changes on the skin, numerous papillomas and psychomotoric retardation have been found. The disease has been proved by the skin-biopsy finding. Our patient, unlike so far described affected persons differed in having a severe papillomatosis of the larynx which necessitated the performance of tracheotomy at the age of one year. Described patient represents a fresh mutation in the family.
