摘要:

The linkage relationships of the serum arylesterase paraoxonase (PON) was examined in our Danish material of normal families and in Danish and English cystic fibrosis families. Highest lod scores were found between PON and cystic fibrosis. The combined lod score for this relationship wasẑ= 2.69 at θ=0.07 in males and θ=0.00 in females. When scored in accordance with a tentative three allele model for PON, the score wasẑ= 3.70 at the same theta values. Linkage studies for PON against 64 other polymorphic marker systems did not give any lod score above + 1.3 and PON still remains chromosomally unassigned. By the present screening about 2/3 of the genome could tentatively be excluded as the region of PON and cystic fibro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00400.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The Dandy‐Walker malformation (DWM) includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. Genetic influences and recurrence risks for DWM have not been well characterized. We report a retrospective study of 21 autopsy‐proven cases of DWM and review the literature regarding an additional 92 subjects. DWM represents marked genetic and etiologic heterogeneity. Recurrence risk for siblings may be high when DWM is associated with a single gene disorder such as the autosomal recessive Warburg and Meckel‐Gruber syndromes. DWM may also result from chromosomal anomalies or environmental factors. When the evidence suggests that DWM has not occurred as part of a Mendelian or chromosomal disorder then the recurrence risk is relatively low (on the order of 1 to 5%). There appears to be an increased frequency of the association of DWM with congenital heart disease, cleft lip/palate and neural tube defects. Based on our study we provide guidelines for the genetic counseling of families having a child wit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00401.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under‐diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusiv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00402.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We have used a 2.2 kb fragment of the human apolipoprotein AI (apo AI) gene to screen a number of unrelated individuals for common restriction fragment length polymorphisms (RFLPs) of the gene. As well as the previously reported SstI RFLP (allele frequencies in normolipidaemic individuals 0.94 and 0.06) we have detected RFLPs with the enzymes PstI and XmnI (allele frequencies in normolipidaemic individuals 0.88 and 0.12 for both polymorphisms). In the population studied, the RFLPs appear to be in linkage equilibrium and can be used in conjunction as a haplotype, with a PIC value (polymorphism information content) of 0.5. Significant differences in allele frequency were observed between subgroups of hyperlipidaemic patients and normolipidaemic controls. There is no strong population association in our patient group between any allele of the RFLPs studied and hypertriglyceridaemia.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00403.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Huntington disease (HD) is an autosomal dominant disorder of the central nervous system with an average age of onset between 35 and 45 years and symptoms progressing slowly over the next 10 to 20 years. Research in the past few years has focused on the hypothesis that a presymptomatic or prodromal phase for HD is detectable at least 10 years prior to chronic symptoms. This study attempts to identify possible signs of a prodromal phase for HD in children who are at primary (50%) and secondary (25%) risk for HD using a screening battery of psychometric tests. The children tested were between the ages of 5 1/2 and 15 years and the tests used were the WISC‐R, the PPVT‐R, and the VMI. Results from this study indicated performance on the WISC‐R Digit Span and to a lesser extent Coding subtests might be useful in assessing a possible memory dysfunction in children at‐risk

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00404.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Carrier determination and prenatal diagnosis in Norrie disease (ND) has so far not been reported. We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a carrier woman is unaffected.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00405.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A clinical study was performed on 14 patients with diastrophic dysplasia (DD), including three pairs of sibs. Six of these patients, including two pairs of sibs, died shortly after birth of respiratory and circulatory insufficiency. We consider these six patients to represent a special lethal variant of DD. In all infants with the lethal variant of DD the birth weight was lower than in those with the non‐lethal variant. There were also roentgenological differences between these two groups. Overlapping in joints and dislocation of the cervical spine were seen in all the lethal cases. In addition, four of the six patients with lethal DD cases had a congenital heart defect, and none in the non‐lethal gr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00406.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Data on parental consanguinity have been recorded for all births in Norway since 1967. Pregnancy outcome for offspring of 848 women mated to their first cousins were compared with offspring of 1,696 control women. The stillbirth rate was 23.6 per thousand for cases and 13.4 for controls. The neonatal death rate was 34.9 per thousand for cases and 14.3 for controls. The recurrence risk for sibs for early death was 9.4% for cases and 4.2% for controls. The mean offspring birth weight was significantly lower (3377 g vs. 3491 g), and the variance in birth weight was slightly larger for cases than controls. The percentage of children with malformations detected shortly after birth was 4.6% for cases and 2.2% for controls. The differences may be attributed to the increased homozygosity in offspring of first cousins. The results have relevance for genetic counselling to consanguineous couples, as well as for the understanding of the etiology of adverse pregnancy outcome and for elucidating the causes of variation in birth weight.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00407.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Characteristic abnormalities of the umbilicus have been noted in children with Aarskog syndrome, Reiger syndrome, and Robinow syndrome. These observations indicate that specific umbilical configurations may be characteristic features of some malformation syndromes. Evaluation of the umbilicus for minor anomalies should be included in the examination of a dysmorphic child.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00408.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

First‐trimester prenatal diagnosis of Niemann‐Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4‐fold sphingomyelin storage had already taken place in the liver (2.5‐fold in the spleen) of this 12‐gestational we

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00409.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY