摘要:

A family is reported in which three of seven siblings were affected with an association of severe cerebral, cerebellar and ocular malformations. Brain malformations consisted of lissencephaly and the Dandy‐Walker anomaly; congenital cataracts, retinal dysgenesis and coloboma of the choroid were found in the eyes. The pathogenesis of these developmental anomalies is probably related to abnormal neuron migration and abnormal closure of fetal fissures, occurring at an early stage of embryonic development. The association of these malformations is unique, and may point to a new malformation syndrome, inherited as an autosomal recessive trai

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00356.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluation program. Case histories are presented of the first four boys in the series to have a 47, XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and psychological evaluations. Parents were informed in general terms of the child's genetic defect, and were offered continuing support and encouragement throughout the study. Close cooperation with the families was maintained. So far, the development of all these children has fallen clearly within the normal range and a reasonable healthy developmental pattern has been secured. Minor deviations in motor, speech and emotional development suggest a common underlying pattern, but four cases are too few on which to establish a relationship between karyotype and phenotype. The data suggest that the symptomatology reported in selected children with a 47, XXY karyotype may be strongly dependent on factors other than the chromosomal constitution, and that an appropriate familial and environmental situation may minimize elevated risks due to the marked genetic defect.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00357.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Additional interstitial and telomere bands in human chromosomes are described using the R‐banding technique. Some telornere hands show similarities to terminal Q‐bands reported in the chimpan

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00358.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

From a total of 418 primary amniotic fluid colonies, 5.5 % were fibroblast‐like (F), 33.7 % epithelioid (E) and 60.8 % had characteristics of what was previously shown to be the principal class of clonable amniotic fluid cells (AF). Polyploidy occurred in all three categories, although both pure tetraploidy and mixoploidy were more frequent in E colonies. The incidence of non‐constitutional chromosomal changes was identical in AF and E type colonies if primary spreads were analyzedin situwithout prior trypsinization. Spreads from pooled cellsuspensionsshowed higher base‐line levels of both aneuploidy and structural changes. Analysis of individual colonies employing anin situpreparative technique is clearly the method of choice for a reliable cytogenetic prenatal diagnosis within the shortest possible period of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00359.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A complete family investigation was made for 598 cases of retinoblastoma and details of any associated congenital malformations were recorded. Associated malformations were found in seven cases, four of which were cleft palate. There was a highly significant difference between the frequency of cleft palate in our cases with retinoblastorna and the frequency in the general population.This result supports the hypothesis that cases of retinoblastoma with associated congenital malformations are caused by germinal mutations.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00360.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

By January 1973, a total of 146 homozygotes (born between 1875 and 1972) for phenylketonuria (PKU) had been identified in Norway. This is an incomplete total, particularly in respect of PKU cases born before 1950, because of the PKU mortality rate.Between 1951 and 1972, the observed incidence of PKU was unchanged at 0.07 ± 0.01 per 1000 live births. Haematological screening of about one‐third of all births in Norway between 1966 and 1972 indicated an incidence of 0.07 ± 0.02 per 1000 liveborn screened. As expected, this was well below the observed incidence of 0.11 ± 0.01 per 1090 from screening data from Denmark, and considerably higher than the observed value of 0.03 ± 0.01 per 1000 screened in Sweden.In comparison, indirect estimates, using the inbreeding coefficient of parents of PKUs and that of the general population in Norway in the corresponding years (1874–1972), suggested a fall in incidence of PKU in Norway from 0.14 ± 0.15 per 1000 live births in 1918, to 0.08 ± 0.08 per 1000 in 1941, and to 0.06 ± 0.06 per 1000 live births in 1972.The present level of inbreeding in Norway (obtained from the Medical Registration of Birth) is discussed and compared with information in the 1891 census, with the parish registers between 1889 and 1902, and with the parochial lists for the years

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00361.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The highest incidence rates of phenylketonuria (PKU) have been observed in Ireland and Scotland. Parents heterozygous for PKU in Norway differ significantly from the general population in the Rhesus, Kell and PGM systems. The parents investigated showed an excess of Rh negative, Kell + and PGM type 1 individuals, which makes them similar to the present populations in Ireland and Scotland. It is postulated that the heterozygotes for PKU in Norway are descended from a completely assimilated sub‐population of Celtic origin, who came or were brought here, 1000 years ago. Bronze objects of Western European (Scottish, Irish) origin, found in Viking graves widely distributed in Norway, have been taken as evidence of Vikings returning with loot (including a number of Celts) from Western Viking settlements. The continuity of residence since the Viking age in most habitable parts of Norway, and what seems to be a nearly complete regional relationship between the sites where Viking graves contain Western imported objects and the birthplaces of grandparents of PKUs identified in Norway, lend further support to the hypothesis that the heterozygotes for PKU in Norway are descended from a completely assimilated subpopulation.The remarkable resemblance between Iceland and Ireland, in respect of several genetic markers (including the Rhesus, PGM and Kell systems), is considered to be an expression of a similar proportion of people of Celtic origin in each of the two countries. Their identical, high incidence rates of PKU are regarded as further evidence of this. The significant decline in the incidence of PKU when one passes from Ireland, Scotland and Iceland, to Denmark and on to Norway and Sweden, is therefore explained as being related to a reduction in the proportion of inhabitants of Celtic extraction in the respective population

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00362.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

This report concerns an 8 year old female with vitiligo and a dysgammaglobulinemia characterized by absent IgA, very low IgG, and normal TgM. The t‐cell immune system was intact but other family members had low levels or absence of IgA. The possible relationship of dysgammaglobulinemia and vitiligo is discussed along with the classification and inheritance of the immune cell defect

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00363.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Sera from multiple sclerosis patients show a deficit of intestinal alkaline phosphatase (serum type Pp2) by comparison with normal sera. This is not due to variation in ABO frequency, since the specimens from patients and normals are matched for ABO frequency, and it is not due to differences in secretor frequency, but represents a real dificit for Pp2 in patients with multiple sclerosis, particularly noticeable in group 0 individuals.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00364.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00365.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY