摘要:

In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50–70) born 1959–1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X‐chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined series of severe and mild mental retardation, the incidence of the fragile X syndrome was calculated to be 1:3000 in the county of Vasterbotten. Next to trisomy 21 the fragile X syndrome was the most common single identified cause of MMR in boys. A cytogenetic investigation using special cultural conditions and banding techniques should be performed in cases of mental retardation of unclear etiology and in possible female car

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00092.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The melatonin excretion in urine was determined in 107 individuals from 23 nuclear families. Complex segregation analysis showed that the melatonin production might be regulated by an additive major gene.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00093.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The uroporphyrinogen‐I‐synthetase (UIS) activity in red blood cells was determined in 206 individuals from 48 nuclear families ascertained through a proband with acute intermittent porphyria (AIP) as well as in 230 members belonging to 53 nuclear families with no signs of AIP. Complex segregation analysis showed that the UIS activity is regulated by a major locus (a dominant or additive gene) together with a considerable multifactorial compon

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00094.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Examination of fetal wastage data for a large collection of CL ± P and CP sibships reported previously (Bear 1978) does not indicate the frequency of recognized abortion to be higher in the sibships of CL + P vs CL index cases, female vs male CL ± P index cases, bilateral vs unilateral CL ± P index cases, female bilateral CL ± P index cases vs male unilateral CL ± P index cases, or male vs female CP index cases. These observations fail to confirm those reported by Dronamraju (Dronamraju et al. 1982, Dronamraju&Bixler 1983a, b), and provide no evidence of a positive relation between degree of liability to facial cleft malformation and fetal morta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00095.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The Y/20 ratio (length of Y chromosome/length of chromosome 20) was examined among 216 males, 108 of whose wives had a history of repeated abortions (study group), and 108 who were mentally retarded (controls). There was no significant difference in frequency of long Y (Y/20 equal to or greater than 1) between the study group and controls. Also, there was the expected male: female ratio among normal living children of couples in the study group, and the Y/20 ratio was not significantly increased among fathers with abnormal male offspring. However, wives of long Y males were more likely to have at least one abnormal male birth, compared with other wives (this approached statistical significance, p<0.08). In addition, a significantly higher frequency of long Y was found in a subset of affected males whose wives had 2 or more spontaneous abortions plus some other abnormal pregnancy outcome. Although the findings reported here do not strongly support a causal relationship, they at least suggest an association between long Y chromosome and abnormal fetal development.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00096.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45, X/46, XX) and Klinefelter mosaics (47, XXY/46, XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00097.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Prenatal diagnosis by amniocentesis in the second trimester of pregnancy has become widely accepted, and the demand for the procedure is increasing exponentially. It is important to reevaluate critically the time and effort spent obtaining a detailed pedigree analysis and family history prior to amniocentesis. Two hundred unselected consecutive cases of women undergoing amniocentesis because of advanced maternal age were studied. One woman had a brother with Duchenne muscular dystrophy and she was found by CPK testing to be a carrier. The prenatal diagnosis revealed that she was carrying a male fetus with a 50% chance of being affected, and the couple decided to have a termination of the pregnancy. A variety of other familial disorders and teratogenic exposures which were found in the studied 200 families were further explored through genetic counseling. Additional reasons for the individual pre‐amniocentesis counseling include reducing anxiety and responding to specific psychosocial aspects of the prenatal diagnosis procedure in particular familie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00098.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

We studied a 3‐generation kindred to determine whether the gene responsible for one form of von Willebrand disease (vWD) is linked to 1) the HLA locus, or 2) a polymorphic locus for a serum enzyme or red cell antigen. HLA haplotypes were determined in 12 affected family members, in 10 cases by direct analysis and in 2 cases by deduction. Seven of 12 affected individuals were A2, B7, as compared to 0 of 9 unaffected. However, the maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein markers studied, 5 (Kell, ADA, AK1, BF, GC) did not segregate, and 12 (ABO, Rh, JK, Fy, P, PGM1, ACPI, ESD, GLOl, MN, HP, GPT) gave lod scores less than +1.0. We conclude that there is no strong evidence for linkage between the locus for vWD and any of the markers studie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00099.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was observed, while females show minor signs only. However it is sometimes possible to identify individual females as carriers. The observation of male to male transmission and the absence of symptoms in some daughters of affected male persons suggest a sex‐influenced autosomal inheritance in this family. This may suggest heterogeneity in the Aarskog syndrome, since in most families described an X‐linked recessive mode of inheritance was indica

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00100.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A father and son with hypertelorism and hypospadias are reported. The father has further, relatively mild, signs of the G syndrome, but his son has severe manifestations, including stridor, feeding difficulties and cardiac anomalies. This supports autosomal dominant inheritance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00101.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY