Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.
HISTORICAL INTRODUCTIONThe direction which the investigation of diseases by morphological methods takes is largely determined by clinical considerations. The investigation of epilepsy is no exception.Fifty years ago, when the i3st issue of this journal appeared, research on epilepsy was concentrated on those forms of the disease which occurred in healthy individuals without apparent cause, predominantly during the first two decades of life, and which took a progressive course leading to personality changes and intellectual deterioration. These forms were referred to as "genuine" or "idiopathic" epilepsy and were believed to represent a nosologic entity related to some kind of pathologic cerebral process. Sclerosis of the cornu Ammonis and Chaslin's marginal sclerosis had become recognized findings in the epileptic brain around the turn of the century; yet, their origin and significance remained obscure and open to speculation. Consequently, it was hoped that the postulated cerebral process could be elucidated with the help of the new histological methods developed by Nissl and Alzheimer. Assuming that an increase in frequency of epileptic seizures, especially in the form of serial attacks, had been effected by an exacerbation of the hypothetical cerebral process, it seemed likely that the pathomorphology of the disease could be most easily revealed on such an occasion. Hence, the brains of epileptics who had died following status epilepticus became the object of intense study. These expectations were fulflled by the discovery of a host of histopathologic findings. Yet, attempts to uncover a specific pathomorphologic pattern failed, simply because the general foundations of pathology which would have permitted the ordering and classification of the various findings and recognition of their common pathogenesis had not been established at that time. Binswanger (2) being well acquainted with the problems of epilepsy, was therefore justifiably critical of Alzheimer's findings when he wrote in the first issue of this journal, "the question still remains open, whether these lesions are the cause or the effect of the many seizures". He thus touched upon the crucial question arising from the anatomical research on epilepsy, already posed by Osler (20) and by Sachs (39) 20 years References p. 53-55
An aberrant X chromosome containing extra material in the long arm was observed in a psychomotoric retarded boy and his healthy, short-statured mother. The proband showed generalized muscular hypotony, growth retardation, and somatic anomalies including hypoplastic genitalia and cryptorchism. Chromosomal banding techniques suggested a tandem duplication of the segment Xq13 leads to Xq22. In the mother the vast majority of lymphocytes showed late replication of the aberrant X chromosome. Some of her cells, however, contained an apparently active aberrant X. Both the early- and late-replicating aberrant X exhibited late replication patterns very similar to those described for normal X chromosomes in lymphocytes. Asynchrony of DNA replication among the two segments Xq13 leads to Xq22 in the dup(X) was never observed. We consider that the clinical picture of the proband is caused by an excess of active X material.
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