摘要:

A genetic analysis of familial systemic amyloidosis with lattice corneal dystrophy, facial paresis and nephropathy has been made. The 228 sibships which were at risk of the disease contained 851 sibs who were subdivided as follows: 207 affected, 134 normal, 158 not examined, 138 not diagnosed because they were too young, and 214 dead sibs.The mode of inheritance was found to be autosomal dominant. The sex ratio corresponded to unity after adequate corrections. The corrected average proportion of affected individuals per sib‐ship was 54.4 ± 3.7% by maximum likelihood method.In two cases there was a strong suspicion of homozygosity for the condition. These cases probably have a limited survival, whereas the heterozygous cases have a better prognosis.Two areas were found to have a high prevalence of the disease: Kymenlaakso and South Häme districts in Finland. In the former, this was 1/1,040 among 182,000 inhabitants, whereas in 1860 in the parish Valkeala the prevalence was calculated at 1/155. Today the true prevalence probably lies between these figu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01140.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about the hands and feet together with an increase in the number of creases on the ventral surfaces. Other altered connective tissue manifestations are present. A discussion is given which distinguishes the clinical and genetic features of this syndrome from those found in similar known heritable disorders of connective tissue.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01141.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A considerably malformed, spontaneously aborted human embryo with an autosomal monosomy is described.Morphological findings: the 17 mm conceptus showed extreme developmental retardation, total amelia, extreme microcephalia, hypoplasia of the umbilical cord and malformations of the heart and the abdomen.Cytogenetic findings suggested an autosomal monosomy of a C‐group chromosom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01142.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

We describe two brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelarism, downward palpebral slant, protruding tongue, kyphoscoliosis and marked difficulty in walking. Their neurological deficits were non‐progressive. The surviving brother at age 23 has spastic paraparesi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01143.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Complete triploidy was found in lymphocyte cultures From a stillborn full‐term female infant with a birthweight of 1,000 g. The child had B ventricular septal detect of the heart hut no other macroscopic internal or external malformations. The mother, who had a history of prolonged anti‐asthmatic medication, displayed a high incidence of satellite associations and chromatid breakages in her cultured lymphocytes. The possibility that such changes are instrumental in the formation of triploid zygotes is discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01144.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

It is suggested that at least in mammals the basic differences between male and female differentiation of the primary gonad lie not only in the direction of gonadal differentiation but in the fact that different mechanisms ensure male or female differentiation. The most important step in the male differentiation is the development and the hormonal secretion of the interstitial cells (prenatal Leydig cells). Germ cells need not be present for this to occur. For ovarian differentiation the presence of the germ cells is required, and for the preservation and development of the primordial follicles, the proper function of germ cells and somatic cells of the gonad seems to be necessary. The locus or loci concerned with the ovarian differentiation of the primary gonad might lie on the euchromatic X chromosome and/or might be located on an autosome or autosomes. Present evidence does not permit the exclusion of either possibility. For further ovarian development with full oogenesis in humans, the second X chromosome is essential.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01145.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals were multiplex cases occurring in 10 families, while 20 were isolated cases: both dominant and recessive inheritance Of the trait have been proposed. This report documents the clinical variation in gene expression observed in a pair of affected monozygous twins, the first to be described with the syndrome. The marked phenotypic variation noted in the twins suggests that it will be difficult to distinguish genetic heterogeneity from variation in gene expression in this syndrome by clinical criteria alone. In the absence of knowledge of the primary gene defect, detailed examination of all first‐degree relatives of probands is essential for genetic counselin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01146.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

The hereditary angioedema syndrome (HAE) is attributed to deficiency of ana2‐glycoprotein which inhibits the activated first component of complement (Cl). This protein is also called C1 esterase inhibitor (C? INH). The disease seems to be transmitted as an autosomal dominant trait. Two variants of the disease have been described: both have a low level of C? INH activity, but in one of them a non‐functional C? INH can be detected in the serum.The family reported belongs to this last type. All affected members had the typical abnormalities of the complement system, namely a low level of active C? INH and a decreased amount of C4 and of total hemolytic complement. The presence of non‐functional C? INH was revealed by an immunochemical assay.The antigenic determinants of the inactive protein we have studied do not differ from those of the normal one. However, the electrophoretic mobilmities of the two proteins were slightly different inasmuch as the pathological protein migrated more slowly. This protein may be a new variant of C

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01147.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures, and mental retardation. Transabdominal amniocentesis was performed at 16 weeks' gestation on a 31‐year‐old female whose one previous child had this disease. ASA concentration in the amniotic fluid was 0.073 μmoles/ml (normal = 0). Cultured amniotic cells incubated with L‐citrulline‐ureido‐11C accumulated ASA‐14C as did cultured fibroblasts of patients with ASAuria; normal cells (including those from subjects heterozygous for argininosuc‐cinasc deficiency) do not accumulate this metabolic intermediate.Pregnancy was terminated at 22 weeks by hysterotomy. Fetal liver ASase was 3–5 percent of normal, and liver ASA concentration was 9.36 μmoles/g wet wt. (normal = 0), confirming the prediction of an affected fetus. Fetal cord serum ASA and citrulline concentrations were 0.098 and 0.071 μmoles/ml, respectively; simultaneous maternal concentrations were 0 and 0.014. Maternal urine ASA concentrations during pregnancy were 0.15.5 and 0.166 μmoles/mg crmtinine; 10 weeks after tcrmination, ASA was present in only trace amounts.Current emphasis is on development of techniques to minimize the delay between amniocentesis and intrauterine diagnosis. It is possible that this and some other no‐threshold aminoacidurias may be diagnosed on the basis of amniotic fl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01148.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G‐band region of the long arm of 21 was missing. In another patient with a typical Down's syndrome the G‐band region and the distal portion of the long arm of 21 were present in excess and were translocated onto the short arm of 15. Clinical features suggestive of Down's syndrome were also seen in a mildly retarded girl with a mosaic chromosome constitution (one cell line had an isochromosome for the long arm of chromosome 21 and the other had a deletion of the short arm of chromosome 21).By correlating clinical and cytogenetic data on these patients, an attempt was made to analyse the phenotypic effects caused by the presence of excess amounts of different segments of chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01149.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY