摘要:

A follow‐up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non‐directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary results have been reported previously (Godmilow&Hirschhorn 1977). Of those families surveyed, 72% responded. Adequate recall of the genetic information was demonstrated by 74% of those responding, and 80% described their counseling experience as favorable. A direct relationship was noted between the degree of satisfaction and whether or not the counselees received the mode of counseling they preferred, i.e., individual versus team. Sixty‐two percent of those counselees reaching a procreative decision indicated that genetic counseling had influenced their decision making. A significant correlation was noted between the magnitude of the occurrence or recurrence risk and the procreative decisions reached. However, some decisions were modified by the counselees' subjective interpretation of the burden associated with the disorder in question.It is concluded that follow‐up of genetic counseling by questionnaire, together with statistical analysis of the data received, can provide the genetic center with valuable information regarding strengths and weaknesses of the counseling program and can suggest ways to improve the counseling process and thereby enhance its effect

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00106.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The inheritance of familial hyper‐alpha‐lipoproteinemia was investigated in 161 individuals in 11 black kindreds and 15 white kindreds. After age and sex adjustment, the distribution of high density lipoprotein‐cholesterol (C‐HDL) in the relatives of probands was examined for evidence of bimodality. In whites, bimodality appeared to be present, with one mode at about 46 mg/dl and the other at about 69 mg/dl. In blacks, there was little convincing evidence of bimodality. In the white kindreds, it appeared that one factor with a relatively large effect is causing the familial aggregation of high C‐HDL levels; this factor could be a m

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00107.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A male infant with mosaic interstitial deletion of 15q is described. He had some dys‐morphic features and complicated congenital right side heart diseas

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00108.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The occurrence of a nephroblastoma in a 2–year‐old girl with Mulibrey nanism is reported. As this tumor has also been reported in some other “mesodermal dysgenesis” syndromes, it seems probable that patients with this form of congenital disease run an abnormally high risk of Wilms

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00109.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A liveborn male infant, with typical features of trisomy13, was found to have a combined autosomal and gonosomal trisomy, 48,XYY, + 13. To our knowledge, this is the first report of co‐existing 13 trisomy and XYY chromosome complemen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00110.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A sensitive assay for acid neuraminidase using 4–methylumbelliferyl‐α‐D‐N‐acetylneura‐mink acid is described. In skin fibroblasts, patients with sialidosis Types 1 and 2 have severe deficiencies of neuraminidase activity compared with controls. Patients with Type 1 sialidosis have activities which are 10 times higher than those with Type 2 sialidosis, in keeping with their milder clinical involvement. Two Italian patients with Type I sialidosis had a Kmwhich was one‐sixth normal; the other patients had a Kmin th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00111.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A patient is described who has a unique combination of symptoms that correspond with two sun‐sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematows (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U.S. blacks, thus far, although African black cases are known. Her DNA repair levels are 20–30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at pres

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00112.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00113.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00114.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY