摘要:

A balancedde novotranslocation X;9(q24;q34) was discovered in a 21‐year‐old girl with oligomenorrhoea. The structurally normal X was late replicating in all cells. The results indicate that an X chromosome breakpoint at q24 provokes ovary dysfunct

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01049.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Graphical displays and listings are presented showing the chromosomal locations of the loci referred to in the Edinburgh Human Gene Mapping Conference (1979), those regarded as homologous between mouse and man, and some others used in linkage studies of chromosomal rearrangements in the mouse. These are all stored on the files of a small computer allowing simple updating and modification.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01050.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The frequency of Y‐positive lymphocytes in blood smears at delivery and during early infancy was assessed to determine the exact time at which it is similar to the frequency in adults. It was found that at day 0 of life the frequency of Y‐chromatin‐positive cells was 26.6 ± 13.2% (mena ± SD); subsequently, it increased gradually to 41.2 ± 12.2 %, 49.7 ± 9.7 % and 55.4 ± 5.2 % at the 30th day, the end of the 3rd month and the end of the 4th month of life, respectively (Fig. 1). The frequency in adult males was 57.8 ± 5.8 %. This is the first time that the same infant population has been investigated in all the stages

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01051.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The distributions of age of onset and age of losing the ability to walk independently in patients with Friedreich's ataxia from 93 sibships are presented. Intrafamilial correlation was investigated using three methods: the Pearson product‐moment correlation coefficient and two estimates of correlation based on analysis of variance, one a maximum likelihood method and the other using a weighted mean family size. All three resulted in correlation coefficients (r) of around 0.5 for both disease parameters. The latter two methods yielded similar values just greater than 0.5 and it is considered that these are more reliable estimates of intraclass correlation as there were a variable number of family members in the sibships studied.Although the examination of intraclass correlation in Friedreich's ataxia was not highly suggestive of genetic heterogeneity, the observed proportion of first cousin marriages amongst the parents of the sibships studied was about twice the expected proportion. Overall, the data would be compatible with genetic heterogeneity if one genotype is more prevalent than others. An alternative hypothesis is that there are different modifying genes operating within different families in which Friedreich's ataxia occur

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01052.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A 10‐month‐old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01053.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A newly recognized limb deficiency syndrome in half‐sibs is described. The similarity of the limb malformations is suggestive of genetic etiology, which is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01054.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The apoE polymorphism of human very low density lipoprotein (VLDL) was studied by the two‐dimensional high‐resolution gel electrophoresis technique of O'Farrell, which combines isoelectric focusing and SDS‐polyacrylamide gel electrophoresis. With whole serum, six major patterns and two “sub‐variants” of apoE were observed. A series of twin pairs (21 monozygotic (MZ) and 13 dizygotic (DZ) pairs) as well as unrelated people were analyzed. Both members of MZ pairs always exhibited the same pattern, whereas DZ twins were often discordant. The patterns observed would be consistent with the hypothesis that three apoE isopeptides are coded for by three different alleles at one single locus. In this small series, all three postulated homozygous patterns, namely apoE‐II, apoE‐III and apoE‐IV as well as the three heterozygous patterns apoE‐11, 111; apoE‐III, IV and

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01055.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Sister chromatid exchange (SCE) was studied in cultured lymphocytes from a limited series of 21 like‐sexed twin pairs; 11 monozygotic (MZ) and 10 dizygotic (DZ) pairs. The 18 subjects, who were between 57 and 61 years old, had an SCE mean value (x̄) of 8.0 whereas the 24 subjects between 33 and 39 years of age had a mean of 6.8. The difference was statistically significant (P<0.001). The effect of age appeared to be present in both sexes. No significant difference was found between females (x̄%7.3) and males (x̄%7.5), nor between smokers (x̄%7.3) and non‐smokers (x̄%7.4). Drug users had a slightly higher mean (x̄%7.9) than non‐users (x̄= 7.0) (P<0.05). This trend was found in each age group. The within‐pair variance was slightly higher in DZ than in MZ pairs. The difference was not significant. We conclude that genetic factors are probably not a major source of subject variation in

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01056.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, are described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritance and rule out X‐linked recessive mode of transmission. The proposita was born to unrelated healthy parents from the Bnei Israel Jewish community of Bombay. She was re‐admitted to hospital at the age of 15 days after umbilical bleeding. Later in infancy there were repeated haematomata and the diagnosis of factor XIII deficiency was established at the age of 1½ y

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01057.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01059.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY