ISSN:0148-7299    

DOI:10.1002/ajmg.1320050102

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

年代:1980

数据来源: WILEY

摘要:

AbstractPrevious studies have shown that in vitro muscle ribosomal protein synthesis (RPS) by monomeric ribosomes (MR) and total polyribosomes (TPR) and collagen synthesis (CS) are significantly increased (P<0.01) in 47 known carriers of Duchenne muscular dystrophy as compared to 60 age‐matched controls. However, there was considerable overlap of the distribution of controls and carriers, particularly for monomeric ribosomal protein synthesis and collagen synthesis. To improve detection of carriers we used discriminant analysis utilizing logs of each measurement as superior to a univariate or bivariate scheme. This study considered four groups: proven carriers (30) (group 1), presumptive carriers (female relatives of Duchenne patients with high serum creatine kinase (CK) levels) (32) (group 2), controls ≥ 20 years old (42) (group 3) and controls<20 years (36) (group 4).TextComparison of groupsMisclassification (%)1 versus 31.41 versus 3 and 40.92 versus 44.42 versus 3 and 41.81 and 2 versus 3 and 42.9These results suggest that discriminant analysis reduces the misclassification rates as compared with univariate or bivariate analysis and confirm the superiority of RPS measurements as a carrier test for Duchenne muscular dystro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050103

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube‐neural crest dysplasia with multiple secondary and tertiary manifestations and deformitie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050104

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

年代:1980

数据来源: WILEY

摘要:

AbstractA case of partial 3p trisomy is reported here. A review of published cases (8 ♂, 2 ♀, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal indentation, square face, hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid‐upper lip, micro‐ or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits.The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was a carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had a 46,XX,t(3;20)(p21;q13) karyotype ‐ ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p21) in the members of the proposita

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050105

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

年代:1980

数据来源: WILEY

摘要:

AbstractTwo brothers previously diagnosed as having α‐aminoadipic aciduria (α‐AA) were subjected to a tryptophan loading test to determine if their condition resulted from a defect in the α‐aminoadipate aminotransferase (kynurenine amino‐transferase) system. Normal increases in kynurenic and xanthurenic acids eliminated this possibility. Further analyses of their urines revealed that both boys had measurable amounts of previously undetected α‐ketoadipic acid (α‐KA) before and after the loading test. A reexamination of specimens from a prelysine and postlysine loading test reconfirmed the existence of α‐KA in their urines at the time the original observation of α‐AA was made. The response to the lysine load was a predictable increase in both α‐AA and α‐KA. The boy who had been referred to this institution with a learning defect responded to the tryptophan load with a slight decrease in α‐AA and an unpredicted decrease in α‐KA and 3‐hydroxykynurenine. His mentally normal brother showed a significant decrease in α‐AA and major increases in all other measured metabolites including α‐KA. The latter results were compatible with a defect in the oxidative decarboxylation of α‐KA. A comparison of the urinary α‐AA and α‐KA concentrations in our subjects with comparable data in mentally normal and mentally retarded patients with this condition suggeste

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050106

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

年代:1980

数据来源: WILEY

摘要:

AbstractThe autosomal recessive form of craniometaphyseal dysplasia was ascertained in two sibships with two affected individuals each. All four parents were normal and in one case they were consanguineous; both families were living in Caracas but had their origins in Tenerife Island (Canary Islands), although no genealogic link between them could be established. The age of the patients ranged from 6 to 14 years and the main clinical alterations were a thick bony wedge over the bridge of the nose, dystopia canthorum, ocular hypertelorism, enlarged malar prominences and mandible, wide alveolar ridges, dental abnormalities, and genu valgum; narrowing of the nasal passages led to mouth breathing. A slight, mixed hypoacusia was present in two patients; no other signs of cranial nerve involvement were detected. The cardinal radiographic features were hyperostosis and sclerosis of the calvarium, the base of the skull, and the facial bones and mandible; increased bone deposition on the walls of the paranasal sinuses; under‐pneumatization of mastoid cells; cortical hyperostosis of the diaphyses of the short and long tubular bones, and gradual, club‐shaped widening of the metaphyses, which had thin cortex and undermineralized medullary bone. The clinical and radiologic alterations had an increasing gradient of severity with age. The phenotype of recessive craniometaphyseal dysplasia is not clearly differentiated from the dominant form but easily so from two other recessive conditions with which it was formerly confused: Pyle disease and craniodiaphyseal dyspla

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050107

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

年代:1980

数据来源: WILEY

摘要:

AbstractElliptocytosis, multiple lipomatosis, and biological false‐positive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two trait

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050108

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

年代:1980

数据来源: WILEY

摘要:

AbstractTwo patients with Charco‐Marie‐Tooth disease subsequently developed cutaneous malignant melanoma. This constellation of diseases may be due to chance, but raises the possibility of a shared neural crest defect or genetic link

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050109

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050110

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

年代:1980

数据来源: WILEY

摘要:

AbstractFewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no information is available on possible variable manifestations in female relatives. Statements that the disorder is inherited as a dominant trait, and as an X‐linked recessive have caused us to consider genetic heterogeneity. A recent large kindred prompted us to survey all published examples. We asked authors to reexamine the families they studied for any expression in relatives. In some cases, no further information could be elicited, but some additional information was gathered and pedigrees modified. This evidence was sufficient to indicate X‐linked inheritance, with severe manifestations in males and extremely variable manifestations in fema

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050111

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

年代:1980

数据来源: WILEY