摘要:

A 20‐day‐old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46, XX,13q+,t(13;18)(q32;qll)pat resulting in partial trisomy 18q. Her father and a 5‐year‐old sister were phenotypically normal, balanced translocation carriers, 46, XY, ‐13, + der(13),t(13;18)(q32;qll) and 46, XX,‐13,+der(13),t(13;18)(q32;qll), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00879.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A case of recurrent abortion was found to be associated with the presence in the mother of a balanced translocation between chromosomes 4 and 9. The karyotype of the proposita was: 46, XX, t(4;9)(q35;q12). The effects of this translocation are discussed in the light of other cases reported in the literature.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00880.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Two Mexican families in which a total of 17 persons exhibited the same pattern of limb malformations are described. The syndrome is characterized by triphalangeal thumbs and brachydactyly affecting the index fingers and the third toes. The clinical findings are variable and the inheritance is autosomal dominant. The syndrome, to the best of our knowledge, has not been described before.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00881.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

We report the presence of a small supernumerary metacentric chromosome in an amniotic fluid cell culture. The extra chromosome was inherited from the mosaic mother, and was characterized by the presence of four satellite regions, two on each side of the centromere. The pregnancy proceeded to term, and our findings were confirmed in the clinically normal offspring. The problems posed by the presence of the marker chromosome, in terms of both cytogenetic diagnosis and genetic counseling, are discussed in the light of similar cases from the literature.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00882.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Use of the well‐established linkage of the secretor locus (Se) to the myotonic dystrophy locus(Dm)as an indirect means for prenatal prediction of myotonic dystrophy requires that the phenotypic expression of the fetal secretor locus be accurately and reliably assessed in amniotic fluid. Secretor status determinations on 89 amniotic fluids obtained by second trimester amniocentesis were compared with results of postnatal secretor typing of saliva samples collected from the resulting 89 offspring. The secretor types of the paired amniotic fluid‐saliva samples were in agreement in all cases. The only unusual typing result was on an amniotic fluid from a blood group O secretor fetus in which the level of soluble H antigen was estimated to be about one‐third that observed for other H secretors. Though it is possible that rare secretor fetuses with very low titers of soluble antigen at the time of amniocentesis could be mistyped as non‐secretors, our results indicate that such an erroneous typing result would only occur in about 1–2 % of all amniotic fluids tested. Constructed mixtures of 10 % heparinized blood in non‐secretor amniotic fluid or of 10 % serum in amniotic fluid derived from secretor fetuses did not introduce sufficient levels of soluble antigen or of antibody to interfere with accurate secretor typing, thus providing reassurance that maternal and/or fetal blood contamination of amniotic fluid does not compromise accuracy of fetal secretor typing. This study documents the accuracy and reliability of amniotic fluid secretor typing for prenatal prediction of fetal risk for later development of myotonic muscula

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00883.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Fibroblasts from 13 homozygotes and 27 obligate heterozygotes with the Norrbottnian type of Gaucher disease and 17 controls were cultivated and assayed with five β‐glucosidase methods, two with D‐[glucose‐U‐14C] glucosylceramide and three with the artificial substrate 4‐methylumbelliferyl‐β‐glucoside. Two marker enzymes were assayed on the same cell samples, 4‐methylumbelliferyl‐β‐galactosidase andN‐acetyl‐β‐glucosaminidase. The β‐glucosidase activity of cultured fibroblasts, as measured with all five β‐glucosidase methods, was significantly lower (P<0.001) for Gaucher homozygotes than heterozygotes. There was no overlap between fibroblasts from Gaucher homozygotes and the others with any of the β‐glucosidase methods used. The β‐glucosidase activity was also significantly lower (P<0.001) for Gaucher heterozygotes than controls. However, none of the five β‐glucosidase assays differentiated between all Gaucher heterozygotes and controls

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00884.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

We delineated a G‐ring syndrome in 1968 and suggested it was due to a ring‐22 (Weleber et al. 1969). We confirmed in 1972 that the ring was derived from chromosome 22 (Magenis et al. 1973). The present report constitutes a new case of the ring‐22 syndrome with clinical findings virtually identical to those we described earlier. By sequential staining techniques with silver and quinacrine, it was possible to determine the parental origin of the ring (maternal) and to estimate the breakpoints in the chromosome 22 (22p12 and 22q13) leading to the ring configuration. The clinical abnormalities are due to terminal deletion of 22q distal to the breakpoint in band 22q13. The silver technique, especially in sequence with other stains, provides new and useful data concerning the origin and precise cytology of this, one of the tiniest rings known in h

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00885.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

This report describes a probably new syndrome seen in a brother and sister and characterized by joint laxity, pectus carinatum and a peculiar face with mild frontal bossing, low nasal bridge, lateral displacement of the inner canthi, malar hypoplasia, parrot‐like nose, chubby cheeks, striking philtrum and arched upper lip

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00886.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Ten affected males studied from four generations of a Colombian family with Dyggve‐Melchior‐Clausen (DMC) syndrome are described. The ages of the affected males varied from 13 to 50 years and they presented with typical clinical and radiological manifestations of the syndrome. The association of normal intelligence and a clear X‐linked recessive inheritance in this family is evidence of heterogeneity in the Dyggve‐Melchior‐Clausen syndrome. In agreement with previous reports for DMC dwarfism, this new form has normal mucopolysaccharide

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00887.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Four individuals with idiopathic intestinal pseudo‐obstruction (IIP), a familial visceral neuropathy with autosomal dominant inheritance, are presented. The disorder is characterised by abdominal colic, abdominal distension and diarrhoea, and is of a progressive nature with relapses and remissions. The main feature is a disturbance of motility in the affected intestine, with histological evidence of a neuronal disorder, characterised by hyperplasia and eventual atrophy. Management of the condition is difficult; initially, treatment should be conservative by nasogastric suction with intravenous nutrition. When laparotomy is undertaken to exclude mechanical obstruction, resection of the intestine is inadvisable, and ileocolic anastomosis may be beneficia

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00888.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY