RESUMEN
In the context of the EUROCAT study, data on selected congenital malformations and chromosome aberrations were collected from the Canton of Zurich (1988-1997). It was found that the major proportion of severe and early malformations, such as anencephalus and holoprosencephaly, were detected prenatally; for oral clefts and meningomyeloceles this was not the case, at any rate in regard to isolated (non-syndromic) malformations. However, if these defects occur in combination with a chromosome aberration, the likelihood of such a case being registered is higher. For the same reason, i.e. due to abnormal ultrasound findings and intrauterine growth retardation, trisomies 13 and 18 were more often detected prenatally than trisomy 21.
Asunto(s)
Anomalías Congénitas/epidemiología , Sistema de Registros , Anomalías Congénitas/clasificación , Anomalías Congénitas/embriología , Femenino , Humanos , Recién Nacido , Embarazo , Suiza/epidemiologíaRESUMEN
A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 5 , Atrofia Muscular Espinal/genética , Axones/patología , Biopsia , Homocigoto , Humanos , Recién Nacido , Masculino , Microscopía Electrónica , Músculo Esquelético/inervación , Músculo Esquelético/patología , Neuronas/patología , Nervios Periféricos/patología , Médula Espinal/patologíaRESUMEN
We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-known multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance.