摘要:

In order to evaluate the medical, psychological and behavioral aspects of Williams‐Beuren syndrome in adulthood, data were collected on 11 patients aged 17 to 66 years. The medical data did not confirm previous reports of significant morbidity. All adults were found to have a moderate or severe degree of mental handicap. They showed the same psychological profile as found in children: good verbal abilities, poor motor abilities, problems with sequencing and with performance tasks. The adults we evaluated showed little disturbing behavior in comparison to other mentally retarded subjects. They achieved a good level of autonomy. The majority lived at home with one or both parents and attended a day centr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04218.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Beckwith‐Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. To define the range and frequency of complications in BWS, we have studied a cohort of 76 affected patients (two previously reported). The most frequent complications were microglossia (97%), abdominal wall defect (80%) and birth weight or postnatal growth>90th centile (88%). Other common features were ear creases/pits (76%), facial naevus flammeus (62%), nephromegaly (59%) and hypoglycaemia (63%). Rarer complications included hemihypertrophy (24%), moderate/severe developmental delay (4%), congenital heart defects (6.5%), polydactyly (4%), neoplasia (4%) and cleft palate (2.5%). Pre‐term labour occurred in 53% and polyhydramnios in 33% of BWS pregnancies. The six deaths all occurred in babies born pre‐term, three of whom had major congenital abnormalities. Five patients (6.5%) from four kindreds had an unequivocal family history of BWS, but 15 of 68 apparently sporadic cases had a relative with possible BWS (minor features only). Incomplete penetrance may lead to familial BWS being underdiag

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04219.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

An investigation has been made of the social characteristics and knowledge and experience of Huntington disease (HD) for the first 80 individuals considering presymptomatic testing (applicants) at the medical genetics centres in Edinburgh and Glasgow and of attitudes to the test procedure and decisions made after testing for those who received a result. Sixty‐one percent of applicants were female and 31% were over 40 years old. Almost all had a symptomatic parent but 38% did not know HD was in their family until they were over 25 years old and 48% had never received genetic counselling. Thirty‐eight percent of applicants first heard of the test at the genetic clinic, 20% from a relative and 20% from the media, but none had received information from their GP. Thirty‐one applicants did not have the test because they voluntarily withdrew (17 individuals), their family structure was unsuitable or no informative result was possible (11 individuals), or they were diagnosed clinically as being affected (3 individuals). Those who voluntarily withdrew did not differ significantly from the 49 who received a result in social characteristics or knowledge and experience of HD. Twenty‐two individuals were found to be at increased risk (IR) (>50% of becoming affected) and 27 to be at decreased risk (DR) (<50% of becoming affected). There was a median period of 9 months between entering the test procedure and receiving a result and the main criticism of the procedure was that it took too long to complete and several individuals experienced considerable anxiety while awaiting their result. One year after receiving their result, almost 40% of individuals had made major life decisions, mainly in the areas of personal relationships, career and financial matters and over a third of fecund individuals in both IR and DR groups had changed their decision about future childbearing. Eighty‐five percent of the IR group and 53% of the DR group requested continued follow up after the 1‐year follow‐up visit. The majority wanted follow up by the genetic clinician, but we have found that in practice many individuals do not attend when offered clinic appointments af

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04220.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Using estimation of numbers of sister chromatid exchanges arising in 15q 11 q 13 as a measure, comparisons of the stability of the Prader‐Willi syndrome critical region have been made. The groups studied included probands with Prader‐Willi or Angelman syndromes either with or without a cytogenetically visible deletion in 15q11q13, their parents, specifically those parents who had passed on the homologue which had become deleted, and a control group. No significant differences were found between any of the four groups, indicating that there was no increase in the instability of the PWSCR region as measured by sister chromatid excha

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04221.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescencein situhybridization (FISH) and quantitative Southern blotting. In both patients, even in the one with no typical facial stigmata, a microdeletion within 22q11.2 was detected. FISH analysis, in particular, is most useful in screening for 22q11.2 segmental monosomy in patients with DGS and DGS‐related feature

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04222.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psoriasis‐typical HLA markers. Psoriasis of the skin has not been found. Environmental factors, including a Köbner phenomenon on the skeleton resulting from a trauma 13 years ago (hallux rigidus operation), are discussed in connection with this manifestation. The genetic aspects of this unusual localization are consider

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04223.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Subjects of reproductive age at risk of having an affected child with a severe single gene disorder such as Duchenne muscular dystrophy (DMD) or cystic fibrosis (CF) were surveyed to ascertain: their views on genetic counselling and antenatal testing; their knowledge of their risk of having an affected child; and their psychological wellbeing. Questionnaires were posted to 209 individuals at 130 addresses; a 65% response rate was achieved. The majority of those surveyed were under 40 years of age (91%), half of them had received genetic counselling only once and for 47% the first encounter was after the diagnosis of their affected child. Most patients expressed their intention to use prenatal testing. However, less than 50% of those counselled knew their risk of having an affected child. Knowledge of risk was associated with the type of disease in the family (p<0.001) (inheritance of DMD was poorly understood by relevant subjects) and was positively associated with the participant's level of education (p<0.05). We did not detect a significant association between the number of intended children and the risk of having an affected child. In terms of family relations, genetic counselling appears to be beneficial for the nuclear family, the couple and their children, but some counsellees reported a detericration in relations with other relatives. The results indicate that couples at risk of having a child with a severe genetic disorder value the counselling provided, but many of them do not remember important facts in relation to their risk status.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04224.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Wiedemann et al. (1985) described a rare syndrome characterised by microcephaly, psychomotor delay, short stature, short fingers and toes with stubby broad thumbs and halluces. Unilateral undescended testis, inguinal hernias, scrotal hypoplasia, and micropenis were also features. They described two males, first cousins, whose mothers and maternal grandfather had short broad thumbs and halluces. We report a male with identical features whose parents were normal. This is only the second report of this syndrome. Autosomal or X‐linked dominant inheritance is most likel

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04225.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We report a sporadic case of complete diphallus with multiple other anomalies in a premature newborn. Chromosomal analysis at the 500 band level showed an apparently balanced reciprocal translocation 46,XY, t(1;14)(p36.3;q24.3). The mother has a normal karyotype, but the father was not available for chromosomal analysis. The significance of this balanced chromosomal rearrangement and the possibility that the chromosomal breakpoints contribute to deregulation of mesodermal development is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04226.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04227.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY