摘要:

A retrospective descriptive study of omphalocele and exstrophic defects of the abdominal wall was carried out in Manitoba to determine the prevalence of these defects, changes in birth incidence with time and their etiologic heterogeneity. The incidence of isolated omphalocele was similar to that reported in other series but the overall incidence of other types of abdominal wall defects was high. Cloacal exstrophy, bladder exstrophy and amnion disruption defects contributed significantly to the number of cases ascertained and emphasized the heterogeneity of abdominal wall defects. There were fluctuations in birth incidence with time with cloacal exstrophy especially apparently being more common in 1980‐81. No specific demographic or environmental factors were documented in the cases seen in 1980‐81 which could explain the high incidence in these years. Cloacal exstrophy is, however, now appreciated to be much more common than first realized. Studies directed at elucidation of the causes of apparent changes in incidence of malformations such as omphalocele or exstrophic defects will have to take into account both the fluctuations in background incidence of these defects and the considerable diversity in their etiol

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00215.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The incidence of live‐born children with Down syndrome was found to be 1.73/1000 (1:578) in northern Finland over the years 1965 to 1979. Despite a marked reduction in the proportion of older mothers, no significant change in the incidence was observed. Instead, an age‐specific rise in the incidence for mothers aged 25 to 29 years could be shown during the last five‐year period in years 1975 to

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00216.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Conditions for assay of a‐JV‐acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied using the fluorogenic substrate 4‐methylumbelliferyl‐2‐acetamido‐2‐deoxy‐a‐D‐glucopyranoside. The substrate was found to have advantage both in terms of sensitivity and ease of use over previously‐used colorimetric substrates for assay of the enzyme in these tissues, and for diagnosis of Sanfilippo B disease and identification of carriers. It should have particular application in first trimester prenatal diagnosis using chor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00217.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Trisomy 20 mosaicism in cultured amniotic fluid cells has in only a few cases been confirmed in fetal tissue. This may lead to the assumption that the trisomic cells are of extra‐fetal origin and interruption of the pregnancy is not advisable. Chromosome analysis of numerous fetal tissues indicated in two cases the presence of one or more trisomy 20 cell clones in rectum and esophagus, respectively. The clinical significance of trisomy 20 mosaicism in single organs remains to be elucidated. Besides the karyotype, genetic counselling should take into account all accessible information of the pregnancy, e.g. ultra‐sound, serum alpha‐fetoprotein values and obstetrical hi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00218.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported.CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non‐paretic muscle

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00219.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A tandem duplication dup(X) (q131–q212) has been diagnosed neonatally because of the peculiar appearance. Family investigation demonstrated that the duplication has segregated through phenotypically normal female carriers for at least three generations. Inactivation studies showed that the aberrant X was preferentially late replicating. The difficulties related to prenatal diagnosis of minor X chromosome aberrations in males are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00220.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00221.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00222.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00223.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00224.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY