摘要:

We report the cosegregation of an arginine to leucine substitution at position 121 of the Norrie disease protein in a large kindred where exudative vitreoretinopathy segregates as an X‐linked recessive trait. The clinical phenotype and rate of disease progression were extremely variable, with progression to total retinal detachment from less than age 2 years to more than 21 years. To date, all mutations in X‐linked vitreoretinopathy have been missense mutations, presumably not affecting the three‐dimensional structure of the NDP gene product, and clustered around residues 121–126 of the Norrie protein. This contrasts with the diversity of mutations seen in the more severe, allelic Norrie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02363.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Velo‐cardio‐facial syndrome (VCFS) is a syndrome associated with haploinsufficiency of genes at chromosome 22q 11. The syndrome has a broad phenotypic spectrum including multiple anomalies, of which cleft palate (CP), congenital heart defects (CHD), and mental disabilities are among the most common. Hence, a high prevalence of 22ql 1 deletions should be expected among cases with a combination of CP and CHD or/and mental disability. In Denmark a population‐based database comprising 2301 CP cases born 1936–1987 has been established. Cases with CP and CHD or/and mental disabilities were selected from the register. By using public registers 39 living cases were identified, among whom 15 agreed to blood sampling and testing for 22q11 deletion using FISH (fluorescencein situhybridization) analysis. Four deletion cases were identified. Using a polymorphic microsatellite marker (D22S264), two cases were shown to bede novodeletions of maternal origin. The parental origin in the two other cases could not be determined. The patients ranged in age from 7 to 40 years. All patients had mental impairment, and one also showed signs of paranoid psychosis. Two cases had CHD. Furthermore, five cases previously karyotyped had other chromosomal aberrations. The study shows that facial cleft registers are an obvious source for identifying a group of patients with a high risk of VCFS and chromosome 22ql 1 microdeletion. These individuals as well as their families can benefit from genetic coun

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02364.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Association of the insertion/deletion polymorphism of the angiotensin‐converting enzyme (ACE) gene with coronary artery disease with or without myocardial infarction (MI) was examined in a group of Chinese and Indian men in Singapore. The sample comprised an angiographically confirmed patient group of 276 Chinese and 102 Indians, of which 155 Chinese and 72 Indians had MI, and a matched healthy control group (147 Chinese and 166 Indians). The frequency of theDallele in the Chinese was 0.39 in those with CAD with MI, 0.43 in those with CAD but without MI, and 0.41 in the control group. The frequency of theDallele in Indians was 0.44 in CAD with or without MI, and 0.45 in the control group. There was no significant association of theACEgene with CAD or MI in the Chinese or Indians, either in the entire sample or in different risk groups. The frequency of theDallele was significantly lower in the healthy Chinese and Indians than that reported in Caucasians. The association of theACEgene with MI or CAD observed in other studies could not be confirmed in the present series of Chinese and Indians in Singapor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02365.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US 1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02366.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

X‐linked spinal and bulbar muscular atrophy (SBMA) occurs due to an expansion of the trinucleotide repeat (CAG)nin the androgen receptor gene. Anticipation is relatively rare in SBMA in contrast to spinocerebellar ataxia type 1 (SCA1), and dentatorubral and pallidoluysian atrophy (DRPLA) which show obvious paternal anticipation. The differences in the CAG repeat number were compared among sperm, leukocytes and skeletal muscles of SBMA patients. In SBMA, the sperm of most patients and the skeletal muscle of all patients showed the same repeat number as their leukocytes, whereas the increase in the repeat number from leukocytes to sperm was evident in SCA1 and DRPLA patients. The higher mosaicism level in sperm compared with leukocytes was common in SBMA, SCA1 and DRPLA, and the level of sperm was lower in SBMA than in SCA1 and DRPLA. Thus, spermatogenesis was suggested to be strongly associated with paternal anticipation. The mosaicism level was smaller in SBMA than in other (CAG)nexpanded disorders, and smallest in the SBMA carrier females. These findings demonstrate that the CAG repeat in SBMA is relatively stable in mitotic and meiotic processes, and there is a possibility that the lower mosaicism level of the carrier females compared with the SBMA patients is associated with X‐linked recessive inherita

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02367.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02368.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

The Schinzel‐Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel‐Giedion syndrome, also showing the karyotypic abnormality 47, XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel‐Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the pa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02369.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

A cystic fibrosis patient homozygous for 621 + 1G→T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21‐year‐old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal r

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02370.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

A new Mexican family with the triphalangeal thumb‐brachyectrodactyly syndrome is described. The proposita, a 17‐year‐old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disease (brachydactyly and nail dysplasia). This is the fourth familial case reported in the literature with the triphalangeal thumb and brachyectrodactyly complex and the third of Mexican origin, reflecting a geographical predominance in the occurrence of this uncommon path

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02371.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Penile agenesis results from failure in the development of the genital tubercle and is rarely associated with chromosomal abnormalities. We report on an echographic prenatal diagnosis of penile agenesis associated with trisomy 13. At birth, the contour of the penile shaft and the glans could not be seen. However, a careful palpation allowed us to determine that the penile shaft was concealed and normal in size, rather than penile agenesis being present. To our knowledge, a concealed penis associated with trisomy 13 has not previously been described.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb02372.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY