ISSN:0148-7299    

DOI:10.1002/ajmg.1320160202

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

年代:1983

数据来源: WILEY

摘要:

AbstractI report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle‐stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involve

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160203

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

年代:1983

数据来源: WILEY

摘要:

AbstractThe membrane organisation of erythrocytes from patients with Duchenne muscular dystrophy (DMD) and from asymptomatic carriers was studied by the electron spin resonance (ESR) spin label technique. Following the work of Sato et al [1978], we used 2‐(14‐carboxytetradecyl)‐2‐ethyl‐4, 4‐dimethyl‐3‐oxazolidinyloxyl as probe. We found no significant difference in lipid fluidity at 30°C, measured by the ratio of the line height at central field to that at high field ho/h−1, in DMD patients or carriers compared to appropriate control persons. Our conclusions for the dystrophic boys differ from those of Sato et al [1978], although our data are consistent with theirs within experimental error.We also studied the variation of the ratio ho/h−1over the temperature range 5–35°C in these individuals. For normal erythrocytes there is a discontinuity in this plot around 15°C that is absent in the erythrocytes of DMD patients [in agreement with the findings of Sato et al, 1978] and also absent in DMD carriers. We suggest the slope of this logarithmic temperature plot over the range 15–35°C is a more useful empirical parameter as the presence of these discontinuities is sometimes uncertain, and using this parameter, we find a clear separation be

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160204

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe an infant with Hirschsprung disease (congenital aganglionosis of the intestine) involving the colon and terminal ileum. Midtririmester prenatal diagnosis of this disorder in this infant was attempted utilizing amniotic fluid disaccharidase analyses, ultrasound, and amniography. Decreased disaccharidase activities in amniotic fluid have been reported previously in association with other forms of intestinal obstruction. At 15 weeks' gestation, normal amniotic fluid disaccharidase levels were obtained. Serial ultrasound evaluations did not indicate any pathology, and the results from amniography were inconclusive. The implication of the normal disaccharidase values is that Hirschsprung disease may in some cases result from degeneration of intestinal ganglia after 16 weeks' gestation rather than from faulty migration of neural crest cells.The inheritance of Hirschsprung disease is generally consistent with sex‐modified multifactorial inheritance with a lower threshold of expression in males. The case we report has a family history of three affected first‐ and second‐degree relatives. Autosomal dominance with variable expressivity is a possible explanation in this f

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160205

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

年代:1983

数据来源: WILEY

摘要:

AbstractTwenty‐four spermatozoa from a man heterozygous for a Robertsonian translocation (45,XY,‐14,‐21,+t(14q;21q) were studied cytogenetically in order to determine the meiotic segregation of the translocation. When compared to the expected 1:1 ratio we observed a greater number of chromosomally normal sperm than sperm with the balanced translocation. Three sperm carried the translocation in an unbalanced

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160206

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

年代:1983

数据来源: WILEY

摘要:

AbstractThe hematological status of 81 infants with Down syndrome was reviewed retrospectively. Twenty babies had no hematological evaluation, 33 had a normal hematological status, and 28 had at least one abnormality, either of hematocrit, white cell count, or platelet count. Among these were 18 babies with increased hematocrit, one with decreased hematocrit, four with decreased platelet count, one with increased white cell count, three with increased hematocrit and decreased platelet count, and one with increased platelet count and increased white cell count. Some of these babies were evaluated for neoplasia or sepsis; however, in all the abnormal blood findings disappeared by 3 weeks without evidence of malignancy or infection. We conclude that hematological abnormaltites with a benign natural history are common in Down syndrome infants.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160207

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

年代:1983

数据来源: WILEY

摘要:

AbstractLikelihood analysis using the mixed model of quantitative plasma Lp(a) measurements on members of a large pedigree provided evidence that high levels of Lp(a) are inherited as a dominant major gene with polygenic background. The dominant allele frequency was estimated as 0.10. The major gene and polygenic components together accounted for 95% of the variation seen in the measurements. The major gene index and OBP plots, methods that do not allow for the presence of both components, favored the polygenic model over the major gene model as the mode of inheritance. No association was found with any of the lipids, lipoproteins or apolipoproteins considered.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160208

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on three unrelated children with neonatal radiological characteristics of the Weissenbacher‐Zweymüller (W‐Z) syndrome. Subsequently, they developed the Marshall syndrome. The relationship between the W‐Z, Marshall, and Stickler syndromes is dis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160209

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

年代:1983

数据来源: WILEY

摘要:

AbstractBrachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal‐recessiv

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160210

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on five cases of lethal Pena‐Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pana‐Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena‐Shokeir syn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160211

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

年代:1983

数据来源: WILEY