摘要:

Skin biopsies from thirteen patients suffering from Ehlers‐Danlos syndrome, including 6 of the mitis type, 4 of the benign hypermobile type, one of the X‐linked type, one of the ocular type and one of the periodontitis type, were studied by electron microscopy after routine preparation.Collagen fibrils showed a distorted arrangement of bent, curled or twisted fibrils and threadlike material. Similar changes may be seen in the skin of other hereditary disorders of connective tissue. However, abnormal collagen fibrils in normal skin suggests one of eight Jypes of Ehlers‐Danlos syndrome. Clinical variants cannot be differentiated on the basis of ultrastructural findings. Elastic fibres were normal without degenerative changes. Perineurium was lacking in dermal nerves of most patients. Fibroblast‐like cells showed no cystic cisterna of endoplasmic r

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00490.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Nineteen women at risk of bearing a child with either Duchenne muscular dystrophy or a neural tube defect participated in a structured scenario study. Eight scenarios were created to allow the women to “try out” possible reproductive outcomes.Our findings suggest that the use of scenarios may be helpful in reproductive counselling, particularly for those women who have difficulty discussing emotional iss

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00491.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Pulmonary function was studied in thirteen individuals heterozygous for the α1‐antitrypsin allele PiF. Respiratory symptoms were present in seven out of twelve individuals with the FM phenotype, of which five had pulmonary function impairment, mostly of the obstructive type. One patient with the phenotype FZ had bronchitic symptoms and a mild obstructive spirometry pattern. The results suggest a relationship between the PiFallele and chronic obstructive pulmonary disease, which is independent of the serum α1‐AT

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00492.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Frequencies of alpha‐1‐antitrypsin (Pi) phenotypes were studied in 100 female and 100 male Swedish patients with classical rheumatoid arthritis and compared with the population frequencies. A significant increase of rare Pi types (MS, MZ, MF and SZ) was found among the patients. However, the increase concerned mainly Z heterozygotes and was more strongly pronounced in male patients. The M‐subtypes showed no association with rheumatoid arthritis. Previous investigations of Pi types in rheumatoid arthritis have shown somewhat variable results. The results so far indicate, however, that an association between the Z allele and rheumatoid arthritis is likely to exist, while the evidence for a relationship between rheumatoid arthritis and other Pi alleles is considerably w

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00493.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

This is the case report of a patient with Wolfs syndrome having a monosomy 4pter→p15.3 and an additional trisomy 8pter→p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent‐1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic “hybrids” with traits of monosomy 4p and of other autosomal segment trisomies exist.The dermatoglyphics of the patient were not highly characteristic for Wolfs syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5%±4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent‐1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5%±2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00494.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We describe a female infant with partial trisomy 8q who has rnicrophthalmia, a cleft palate, micrognathia and a heart defect. Her dysmorphogenetic features closely resemble the characteristic pattern seen in the 17 cases thus far reported in the literature. Her chromosomal defect was caused by an unbalanced translocation, inherited through her father, and found to have been transmitted through at least 5 generations. Recently developed models designed to predict the most probable mode of unbalanced segregation from the meiotic quadrivalent and the likelihood that a chromosomally unbalanced fetus will survive to term are applied to this family's translocation. Also, the frequencies of potential reproductive outcomes from carriers of this translocation generated from empiric data are considered as a requisite aid to genetic counseling.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00495.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Four families with the cryptophthalmos‐syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos‐syndactyly syndrome and may serve as one of diagnostic criteria for this ent

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00496.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We describe two siblings with asymmetric limb reduction malformations. Such anomalies are usually considered to result from sporadic events, but the recurrence in siblings without any identifiable teratogenic insult suggests a genetic etiology. This finding becomes important when parents are counseled about future pregnancies. The use of prenatal diagnostic techniques during subsequent pregnancies should be considered.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00497.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00498.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35‐week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low‐set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker‐bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00499.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY