摘要:

AbstractA 267‐member Caucasian kindred with a high incidence of cardiovascular disease, originally from Evans County, Georgia, was chosen for genetic analysis of serum lipid levels and blood pressure. Total serum cholesterol, triglycerides, high density lipoprotein cholesterol (HDL), and systolic and diastolic blood pressures were natural logarithm transformed and then adjusted for significant age, sex, and behavioral trait effects. Major gene pedigree analysis was used to estimate genetic parameters and to test hypotheses about the mode of transmission of each trait. Multivariate methods were also used to estimate linear combinations of the variables that best fit genetic models.The data were consistent with a major gene segregating for high levels of triglycerides in this kindred. However, dominant and recessive hypotheses could not be distinguished. Although diastolic blood pressure fit a mixture of two distributions significantly better than a single normal, major gene hypotheses could be rejected while the no‐transmission hypothesis could not. There was no evidence of a major gene effect on cholesterol, HDL, systolic blood pressure, or any of the hypothetical traits represented by linear functions of the physical‐lipid t

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260302

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

年代:1987

数据来源: WILEY

摘要:

AbstractSince the mid‐1970's, inflation and changing patterns of subsidies for genetic service centers in the United States have increased the costs of these services for patients and insurers. We have monitored this trend by periodically surveying the providers of these services to determine their current billing rates. We report here recent rates for cytogenetic laboratory services as well as for clinical in‐ and outpatient genetic consultations. Prices for the main laboratory and consultation services are approximately twice their 1976 level, but these increases parallel those of medical care. The inflationary trend is slowing. Geographic variations in pricing differences in charges between M.D.'s and Ph.D.'s, and certain personnel trends in genetic centers are apparent in our d

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260303

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

年代:1987

数据来源: WILEY

摘要:

AbstractA retrospective study of 3,411 women who underwent midtrimester amniocentesis for fetal chromosome analysis between June 1979 and August 1984 was performed to evaluate an association between low maternal serum alpha‐fetoprotein (AFP) concentrations and Down syndrome (DS) pregnancies. A total of 71 pregnancies was found with abnormal fetal chromosomes; of these, 26 cases were trisomy‐21 and 10 cases were trisomy‐18. The maternal serum AFP in women with DS fetuses was relatively lower than levels in women with fetuses that had normal chromosomes. In addition, the AFP concentrations in amniotic fluid were decreased in cases involving DS fetuses. We have estimated the risks for DS pregnancy at all maternal ages and most serum AFP concentrations. Using these calculations, genetic counselors will be able to provide more accurate risk estimates for trisomy‐21 following maternal serum AFP

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260304

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

年代:1987

数据来源: WILEY

摘要:

AbstractA girl with multiple anomalies was found to have trisomy 14 mosaicism. The physical findings in reported cases indicate the condition is a recognizable syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260305

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe describe an infant with dysgenetie male pseudohermaphroditism and the karyotype 45, X/46, X,del (Y)(q11.1). Histologic examination of the resected gonads showed cortical dysplasia indicative of incipient gonadoblastoma.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260306

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and feet and hyperky‐phosis, and a peculiar “coarse” face with swelling of the subcutaneous tissue, particularly of cheeks and lips. According to the present observations early‐onset, generalized seizures can be added to the symptom complex of this autosomal recessiv

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260307

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on a mother and son with unilateral absence of most of the proximal carpal bones, dysplasia of the distal row of carpal bones, and deformity of the forearm. Although carpal bone dysplasia has been reported in several congenital or progressive disorders, unilateral involvement with lack of progression makes this a distinct entity.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260308

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

年代:1987

数据来源: WILEY

摘要:

AbstractTo evaluate the suggested nonrandom folding of Xql3‐q21 (center of Barr body condensation) of the inactivated X chromosomes, metaphases from nine subjects with or without X chromosome abnormalities (eight females and one male) were investigated with RBG‐staining. A significant increase (p<.05) in the number of arm folds (Xq13‐q21) of the late‐replicating X chromosome, particularly in early to mid‐metaphase, was observed in four of eight females. Therefore, the stage of chromosome contraction was an important factor with more folds observed at the centromeres and in longer chromosomes in early metaphase compared with mid‐ to late metaphase. X chromosome folds were present in cells of subjects treated with or without bromodeoxyuridine. While our study agrees with the relationship of Xql3‐q21 fold with the X‐inactivation center, the correlation of extended chromosomes and folding limits this method as a sole indicator of X‐inactivation in routine mid‐metaphase, but is useful in the analysis of early me

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260309

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

年代:1987

数据来源: WILEY

摘要:

AbstractOf 10 patients with typical Sotos sequence, 5 had various congenital heart defects. They included 2 patients with secundum atrial septal defect, and one patient each with patent ductus arteriosus with mitral valve regurgitation, tricuspid atresia plus pulmonary atresia and ventricular seplal defect. Increases of head circumference and weight gain were less accelerated in the patients with congenital heart defects than in those without heart defects, while growth in length was comparable between the 2 groups. In view of these findings, it is suggested that the rate of congenital heart defects in patients with Sotos sequence is much higher than that reported in the literature.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260310

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260311

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

年代:1987

数据来源: WILEY