摘要:

Analysis of 126 families comprising 205 patients with congenital glaucoma demonstrates that in Gypsies this disease follows the pattern of autosomal recessive inheritance with complete penetrance, while in the non‐Gypsy population, its mode of inheritance is most probably multifactorial. In Gypsy patients with congenital glaucoma, the eyes are always bilaterally affected, the onset of the disease is in the prenatal period, and its course is rather severe. The population frequency of the disease is extremely high (among Gypsies), and the consanguinity rate among parents is as high as 41%. In non‐Gypsy patients, 26.6% of all cases are only unilaterally affected, and the course of the disease is generally milder with a later onset. The population frequency in a non‐Gypsy population is much lower, the consanguinity rate is not increased, and an excess of males (1.55:l) is signif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00142.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The agglutination of the bacteriumProteus vulgarisby serum from cystic fibrosis patients and obligate heterozygotes was shown to be insufficiently specific or reproducible to be of diagnostic value by itself. Approximately 20% of healthy controls gave a substantial agglutination reaction, whereas the carrier frequency for cystic fibrosis is around 5%. The agglutination did not predominantly involve the bacterial flagella, but appeared to depend on components of the cell surface. The main serum proteins that bind toP. vulgariscells were shown to be albumin, immunoglobulin G, and complement component C3. In addition, an unidentified protein(s) of low molecular weight was found to bind to the cells. However, no systematic differences were found in the proteins that bind toP. vulgariscells between cystic fibrosis and normal sera.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00143.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The femoral hypoplasia‐unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia. It is felt to be sporadic in nature. An affected father and daughter are described, implying dominant inheritanc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00144.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Seventy‐nine Nigerian oculocutaneous albinos were investigated. Fifty‐six had typical tyrosinase‐positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigment, yellow hair, blue to brown irides, nystagmus, and reduced or absent retinal pigment. Localized skin pigment included freckles and lentigines. The iris and skin pigment were the result of the slow accumulation of pigment with age as both were found in older individuals. The most severe skin changes were premalignant keratoses and squamous cell carcinoma of the skin, and the skin malignancies were the major factor in limiting the lifespan for TPA. The BA were characterized by generalized light brown skin pigment, light brown hair, blue to brown irides, nystagmus, and reduced retinal pigment. There was little accumulation or change of pigment in the eyes or skin with age. The generalized light skin pigment was effective in reducing sensitivity to solar radiation and very few BA had premalignant keratoses. Pedigree analysis for BA suggested an autosomal recessive inheritance pa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00145.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clinical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal No. 21. The normal cell line appears to be replacing the abnormal clone.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00146.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with “harlequin ichthyosis”. The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies. These biopsies showed premature hyperkeratosis, most marked around hair follicles and sweat ducts, and forming plugs of hyperkeratotic debris. These observations were in distinct contrast to those in control fetuses, whose epidermis consists of squamous epithelium only a few cells in depth with minimal keratinizat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00147.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Lack of silver staining of a variant chromosome 17 and its failure of involvement in satellite association indicate that this variant is a heteromorphism rather than a trans‐location of satellited material from any other acrecentric chromosom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00148.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non‐Alport's hereditary nephritis fit sex‐linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male‐to‐male transmission, while one large pedigree is tentatively compatible with sex‐linked dominant inheritance. Many of the other pedigrees suggested male‐to‐male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male‐to‐male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary ne

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00149.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease has been investigated by assay of adenosine deaminase activity in cultured amniotic fluid cells using a microradioassay. A low‐normal level of activity consistent with heterozygote status in the foetus was found and confirmed after birth by assay of red cell and fibroblast adenosine deaminase activities. It is suggested that the radio‐assay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric proced

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00150.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00151.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY