摘要:

Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N‐sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members gave decreased values and are presumed heterozygote

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03471.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A case of duplication of segment p13–p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03472.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non‐specific mental retardation, 101 first‐degree relatives of fra(X) positive patients and 36 non‐retarded patients, referred for other reasons. As a rule 50 cells, cultured in folate‐deficient medium were analysed. The results are compared with data collected from the literature and with the data expected from prior genetic risks and fra(X) penetrance. If no more than 50 cells were analysed, the fragile site was found in a lower than expected proportion (69.2%) of the retarded first‐degree male relatives. The probability of misclassification can be calculated for various levels of fra(X) expression. We conclude that in a substantial number of unselected patients with mental retardation the diagnosis fra(X) syndrome will only be confirmed cytogenetically if at least 100 cells are analysed. Five percent of the male and 10% of the female index patients showed a fragile X‐like abnormality, probably not associated with the Martin‐

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03473.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A constitutional karyotypic abnormality, ins(16)(p11.2), is described in a case of myelodysplastic syndrome (MDS). The source of material for this insertion could not be established, but did not arise from either a balanced deletion or translocation, and did not consist of constitutive heterochromatin as defined by C‐banding. The same lesion was found in both sisters, both nephews and four of the five great‐nephews. Of these, all were phenotypically and haematologically normal, with the exception of a great‐nephew who at the age of 6 exhibits features compatible with partial trisomy 16p. The relationship of the karyotypic abnormality to the MDS and partial trisomy 16p in this family is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03474.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

There are several types of autosomal dominantly inherited sensorineural hearing loss (AD‐SNHL), differentiated by audiograms. It is generally accepted that there are similarities in audiograms among members of the same family with dominant deafness. It has been supposed that AD‐SNHL must be divided into several types according to their audiograms or clinical courses. Eighteen families with AD‐SNHL are dealt with in this study. By measuring the slope of audiograms and superimposing audiograms, AD high‐frequency sensorineural hearing loss can be divided into four types. The first type has the steepest audiograms, the second has somewhat less steep audiograms, the third has gently sloping audiograms, and the fourth has audiograms close to horizontal. In each type “The audiograms breed true”, i.e. the audiograms even of members of different families having the same type do not overlap within the limits of error in audiometry. These four types of dominant high‐frequency sensorineural deafness appear to be discrete clin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03475.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

In this report we give a detailed description of the clinical and psychological follow‐up data of three young 49,XXXXY males, paying special attention to changes in intellectual performance and behaviour at different age

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03476.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A large family with Charcot‐Marie‐Tooth disease, showing a probable X‐linked incomplete dominant inheritance, was studied by linkage analysis. Results, obtained by the use of X chromosome specific DNA probes of known regional location, suggest that the disease locus is linked to the DXYS1 locus (ž=2.59 at θ= 0.00) and to the DXS14 locus and, places the disease locus between the DXYS1 locus and the DXS14 locus, near the centromere of the X chromosome. Together with the published data, a distance of 13 cM (ž= 6.95) was assessed between the disease locus and the DXY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03477.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Levels of folate, vitamin B12, the vitamin B12binding proteins, apotranscobalamin I, II and III (TC I, II and III) and the unsaturated vitamin B12binding capacity (UBBC) were measured in mid‐trimester amniotic fluids from normal pregnancies, and from those where the fetus had open spina bifida, anencephaly or omphalocoele, and where the fetus was normal but the mother had had a previous neural tube defect pregnancy. At 15–19 weeks' gestation, vitamin B12levels were low in the fluids of all the types of abnormal fetuses, and also of normal fetuses where there had been a previous NTD sib. In contradistinction, TC I, II and III and UBBC levels were generally abnormally high in all these groups. Low vitamin B12levels in the face of high carrier protein levels suggest deranged vitamin B12production or transport. Since these abnormalities are present in fluids from normal sibs of NTD individuals as well as from those with midline lesions, an inherited defect is implied. We propose that at least part of the genetic predisposition to NTD, and possibly other midline defects, could reside in an abnormality connected with vitamin B12production, transport or metabolism, and a mechanism is sugges

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03478.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A familial 11/21 translocation is described where the proband has an unbalanced translocation and the oldest translocation carrier shows mosaicism with a partial trisomy no. 21.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03479.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Phytohaemagglutinin induces interferon‐gamma synthesis in lymphocyte cultures from healthy individuals. We report two sibs with recurrent infections, selective IgA deficiency, and reduced blast transformation index under PHA‐stimulation, without interferon‐gamma res

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03480.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY