摘要:

A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual coincidence of pituitary insufficiency with XY gonadal dysgenesis, evidently the first to be reported.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01768.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter‐ and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P<0.01), as well as between laboratories (P<0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method use

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01769.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22 %, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000.The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht‐Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, “degenerative” histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME.The importance of accurate diagnosis is str

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01770.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Two brothers with XX male syndrome with penoscrotal hypospadias are reported. Chromosomal analysis of cells from the peripheral blood, skin, and testes revealed a normal female karyotype in both subjects. Biopsy of both testes in the brothers showed histological features of normal immature testes and no evidence of ovarian structures. Neither vagina, uterus nor fallopian tubes could be detected either by exploratory laparotomy or retrograde urethrography. Results of endocrine studies on serum gonadotropins (LH and FSH) and testosterone levels as well as their responses to LH‐RH and hCG stimulation tests were normal for age. Studies of various genetic markers, including the Xg blood type and erythrocyte enzymes, were performed in the probands and their parents. Possible explanations for the paradoxical occurrence of testes in XX males and for the familial occurrence are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01771.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Phenotypes of alpharantitrypsin (A1AT) were determined by isoelectric focusing in blood samples from 926 healthy Caucasians living in South‐West England. Three subtypes of the most common allele product (M), designated Ml, M2, and M3, were identified. Routine determination of these subtypes should considerably amplify the usefulness of the A1AT polymorphism in population genetics and, in view of the possible association of clinical disorders with heterozygous deficient M phenotypes, may enhance the value of Pi determinations in clinical genetic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01772.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

In Finland, 19 children, born 1964–1977, from 13 families, have been diagnosed as suffering from nonketotic hyperglycinemia (NKH). This gives an incidence for NKH in the Finnish population of 1:55,000 newborns. The majority of these children were born in the northern part of the country, where the incidence is 1:12,000. The geographical distribution of the birth‐places of the grandparents also seems to point towards an enrichment of the gene in northern Finland. An autosomal recessive mode of inheritance for this disease seems probable, since the corrected proportion of affected siblings (Apert'sa priorimethod) is 0.288. Abnormally high plasma glycine concentration and elevated glycine urinary excretion in the parents of the NKH‐children suggest the existence of a minor metabolic defect in heterozygotes of this disease. Some of the healthy siblings of the NKH‐patients also show similary elevated levels. However, a definite diagnosis of the NKH‐heterozygote state cannot easily be made on the basis of these laboratory findings, as the levels in some individuals are very close to, or even overlap corresponding values in a normal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01773.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

For visual and automated analysis of banded human chromosomes, the band pattern features of chromosome profiles considered essential for the cytogeneticist were evaluated. These features were found to be related to each peak (dark band) and its adjacent valley (light band) in the direction p – q. A method for extracting and describing these features was developed and implemented on a computer. The method determines three normalized parameters for each peak and adjacent valley: (1) density of peak; (2) density difference (transition) between peak and valley; and (3) position of peak. Each profile is described by a simple sequence of band transitions (BT‐sequence). The BT‐sequence was visualized as a profile (BT‐profile) using only the information retained in the BT‐sequence. Visual classification of BT‐profiles shows error rates comparable to visual classification of ordinary density profiles (Lundsteen&Granum 1979). It is therefore concluded that the BT‐profiles do retain the important band pattern features of the profiles, and it is supposed that the simple and condensed BT‐sequences constitute an appropriate basis for automa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01774.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Band transition profiles (BT‐profiles) representing extracted band pattern features of 898 density profiles of banded chromosomes were classified and karyotyped by a cytogeneticist in order to investigate how much information was lost by substituting for the original density profiles their extracted features. The results were evaluated and compared with visual classification and karyotyping of the same 898 density profiles from which the BT‐profiles were derived.Six per cent errors were made in classification of isolated BT‐profiles and 0.7 % errors were made in karyotyping BT‐profiles. These error rates were comparable to the corresponding error rates in classifying and karyotyping density profiles, which were 5 % and 0.5 %, respectively.It is concluded that most of the important band pattern information of the density profiles is retained in the BT‐profiles, and it is supposed that the condensed BT‐sequences (from which the BT‐profiles are derived) constitute a sufficient and appropriate basis for automate

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01775.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Chromosomal mosaicism in cultured amniotic fluid cells presents one of the most difficult problems in prenatal diagnosis in predicting the foetal phenotype. We present a case in which trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted foetus.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01776.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X‐linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub‐divided into those with and withoutseveremental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease ent

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01777.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY