摘要:

AbstractWe have analyzed the digital and palmar dermatoglyphics in a sample of autistic children from the Basque Country. The results have been compared with those from a control sample having the same characteristics relative to the ethnic region. We found significant differences between the digital dermatoglyphics of autistic boys and control boys. Autistic children have a higher frequency of transitional radial loops and a lower frequency of dicentric whorls; also the total finger ridge count (TFRC) and radial count are lower in autistic individuals. There were no significant differences in the girls. In palmar dermatoglyphics, autistic girls have a lower frequency of radial loops in the hypothenar area, and the value of the “atd” angle is higher than in control girls. These differences were significant. Thea‐binterdigital ridge count is significantly lower in autistic boys. Autistic children of both sexes have a higher frequency of aberrant palmar creases. The results obtained in the present study do not contradict the hypothesis that genetic factors may be important in autism of unknown

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on 2 relatives with a segmental duplication of 5q11.2→13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene forHEXBlies within the duplicated region. We suggest this region as a candidate region for the location of a single major gene which predisposes to schizophrenia and which may be assessed by linkage analysi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractOur finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this “syndrome.” Most patients have a variety of non‐dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non‐specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractSeventy‐five male and 50 female students from 2 special schools for mildly, moderately retarded, or borderline individuals were screened clinically and cytogenetically in order to estimate the contribution of fragile X [fra(X)] syndrome to the cause of mental retardation in Brazil. We found 6 males (8%) from 4 families and 2 unrelated females (4%) with fra(X) chromosomes. One male and one female were isolated cases. The estimated frequency of Martin‐Bell [fra(X)]syndrome among mentally impaired individuals in Brazil was similar to that previously reported in other countr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractFragile X (or Martin‐Bell) syndrome is an X‐linked disorder that often produces mental retardation in males, but usually affects heterozygous females to a lesser degree. Here we report the results of a brief neuropsychological examination of 20 heterozygous fra(x) girls and women and two control groups of 20 individuals each. One control group was composed of fra(x)‐negative mothers (obligate carriers) and sisters of male probands with fra(x) syndrome, whereas the other was composed of 14 head‐injured and six learning disabled women and girls. In addition to general intellectual impairment, several specific cognitive deficits were consistently found in individuals with the Martin‐Bell syndrome, suggesting focal neuropsychological dysfunction.Significant differences were noted between fra(x) individuals and controls on most cognitive and neuropsychological measures studied. Over one‐third of the fra(x) individuals demonstrated neuropsychological symptoms characteristic of the full developmental Gerstmann syndrome, whereas another third had three or four of the five signs of possible parietal lobe dysfunction. In our sample, there was an association between improved performance and increasing age. Differences among heterozygous individuals in number of focal symptoms may reflect some variability in the penetrance of the fra(x) gene, as well as in the functional organization o

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractIn this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractIn an investigation of malformation associations in consecutive perinatal autopsies, 4 infants were identified as having a displaced or supernumerary bronchus. Each had a different type of bronchial abnormality and 3 had congenital heart defects and other malformations.Review of the literature found 38 other cases of aberrant bronchi with additional defects, especially cardiovascular or costovertebral anomalies. Structural cardiac defects were more common in patients with supernumerary tracheal bronchi (67%) than in those with displaced tracheal bronchi (27%) or bronchoesophageal connections (23%). There was also a strong negative association (P=0.01) of cardiovascular and costovertebral defects unless multiple anomalies were present.The combinations of anomalies seen appear to reflect relatively specific developmental field defects affected both by the spatial relationships of organs near the developing foregut and by temporal sequence. Recognition of these patterns has clinical and embryological importance. Aberrant bronchi should be considered when children with cardiac defects or multiple anomalies such as the VACTERL association have unexplained respiratory symptoms and surgeons planning to treat such bronchial abnormalities should be aware of the high frequency of abnormal vessels in these cases.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on a newborn boy with Neu‐Laxova syndrome and spina bifida, bilateral cryptorchidism, and shallow orbital cavities. Asso‐ciation of these manifestations in Neu‐Laxova syndrome is the first to be reported in the literature. This is the first report of Neu‐Laxova syndrome fro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractA patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autops

ISSN:0148-7299    

DOI:10.1002/ajmg.1320350111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY