摘要:

Although the majority of patients with cystic fibrosis (CF) show a typical clinical course, a minority with the same clinical phenotype at the time of initial diagnosis have an atypical (mild) course.Skin fibroblast cultures were established from 49 members of the family of one such atypical CF adult patient, previously identified (Danes et al. 1976) as CF Class II (ametachromatic and no metabolic cooperation with CF Class I fibroblasts), the offspring of Class I (metachromatic, metabolic cooperation with normal fibroblasts)/Class II mating. The culture phenotype for Class I was traced on the maternal side and for Class II on the paternal side through consecutive generations and the culture phenotype of each class segregated.This family study added experimental evidence to support the hypothesis that the atypical (mild) clinical features and course of this adult CF patient were due to two different CF genes combining to produce a genetic compound expressing a mild form of CF.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01284.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Two XX males who were second cousins are reported. A genetic mechanism producing maleness is suggested. The putative factor had been transmitted solely through males, which excludes the possibility of a heritable X‐Y interchange.Recent reports on fluorescent Y chromatin in Sertoli cells of XX males prompted investigations into the fluorescence patterns of testicular cells. Sertoli cells from three XX males displayed brightly fluorescent spots, but it was concluded that they did not represent Y chromosomes. Evidence for this conclusion was obtained from the study of testicular fluorescence in XX, XXY and XY males.No visually detectable cytogenetic evidence for an increase in length or altered banding pattern of one of the X chromosomes was found in three XX males.We conclude that an autosomal gene is the most likely explanation of the male differentiation in the two XX males presented her

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01285.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Placentas were studied from three interrupted pregnancies of a mother whose first live‐born child had I‐cell disease (mucolipidosis II). I‐cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in two pregnancies, but in the third case placenta was the only available product of conception. In every placenta extensive vacuolization of the syncytiotrophoblastic layer of the chorionic villi and chorionic mesenchymal cells was found. In electron microscopy the inclusions were identical to those of other tissues in I‐cell disease. The importance of histological study of placenta in unexplained spontaneous abortions needs to be emphasized, since this may be the only way of detecting new cases of lysosomal storage d

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01286.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

On the fifth day after subcultivation, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling‐Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous woman, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling‐Creutzfeldt disease. Furthermore, they suggest that the SCD locus is subject to lyonizat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01287.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A patient is reported with a typical Down syndrome phenotype, caused by partial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01288.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A phenotypically female child, investigated because of short stature, had abnormally large, often bipartite Barr bodies and a mosaicism of 45,X cells and cells with 46 chromosomes which included an exceptionally large metacentric chromosome (Xp +). G‐ and C‐banding established that the chromosome was derived from two substantially entire X chromosomes joined short arm‐to‐short arm, and was likely to be an isodicentric X with functional in‐activation of one c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01289.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A syndrome compatible with an X‐linked trait is described, affecting four male cousins in three sibships. The boys had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. In addition, they had moderate developmental retardation, and abducens palsies. Three of the four had glucose intolerance, and one was born with an imperforate anus.Of five female obligate carriers studied, three had fusion of cervical vertebrae, three had some shortening of the middle phalanges and three had glucose intolerance.The syndrome in this family was compared to previously reported syndromes, and the conclusion was reached that it represents a previously unreported X‐linked syndrome with minor manifestations in carrier fema

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01290.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Phenylalanine loading was carried out on 105 parents of children with phenylalanine hydroxylase deficiency and 33 apparently normal individuals with no family history of phenylketonuria. The best discriminant was found to be the logarithmic transformation of the slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration over the maximum serum phenylalanine concentration obtained after an oral load with a pure solution of L‐phenylalanine. The overlap between heterozygotes for phenylketonuria and normal homozygotes was 2.4%. The distribution of the discriminant values suggested three heterozygous phenotypes for phenylalanine hydroxylase deficiency, and the phenotypic combination of parents could be correlated to the phenotype of their affected offspring, i.e. classical phenylketonuria, mild phenylketonuria or hyperphenylalaninemia. The probability of heterozygosity for phenylketonuria was determined by means of the distribution of the discriminant values of the heterozygotes and that of normal homozygotes. The likelihood of being a heterozygote was corrected for the genetic background of the person requiring genetic counseling, and was finally expressed as the percentage probability of being a heterozygote for phenylketonuri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01291.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Ambiguous genitalia, microcephaly, microphthalmia, hypotelorisrn, single choanal opening, low‐set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant that died 1 hour postpartum with the karyotype 48,XXY,+1

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01292.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The incidence of neonatally diagnosed congenital dislocation of the hip joint (CDH) was found to vary between three hospitals in Northern Sweden. The incidence was 10.0, 7.1 and 3.5 per thousand in hospitals A, B and C, respectively. The incidence increased during the period 1960–73 in hospitals A and B, but not in hospital C. At these hospitals the number of cases needing prolonged orthopaedic treatment showed an inverse relationship to the incidence of neonatally diagnosed CD

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01293.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY