摘要:

“Diphenoloxidases” have been detected in human blood platelets. These enzymes demonstrate abnormalities in PMD and the observed abnormalities appear to be specific for the genetic lesion which is responsible for the dise

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01126.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Testosterone exercises a negative feedback upon pituitary gonadotrophs, paiticularly presumptive LH producers, of both the normal male and normal female mouse. In sharp contrast, the effect of testosterone upon the corresponding cells ofTfm/Y♂ can best be described as a positive feedback. These cells ofTfm/Y♀ atrophy after castration and show remarkable hypertrophy in response to continuous administration of testoster

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01127.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Two hundred and ninety‐seven blind Mexican individuals were screened for sulfur‐containing amino acids in the urine, using cyanide‐nitroprusside and silver‐nitroprusside tests. Samples giving positive or doubtful results were further investigated by one‐way paper chromatography. Five patients with homocystinuria were found; two of them had congenital cataract, one had optic disc atrophy, one had pigmentary retinosis and the remaining one had albinism. Excluding cases due to environmental factors, the prevalence of homocystinuria among blind people in Mexico City comes close to two

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01128.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Karyotype analysis of a spontaneous abortus revealed a double heteroploidy, 46, XY, t(DqDq), + 17‐ 18. The application of trypsin banding technique resulted in the identification of the karyotype as 46, XY, t(13q14q),+18. Peripheral lymphocyte culture from the mother of the abortus revealed an achromatic constriction in the long arm of a chromosome 16 in 6.6 percent of the analysed cell

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01129.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

“Reproductive casualty” is defined as the occurrence of abortion antepartum hemorrhage, preterm birth and pre‐ and peri‐natal death, and of offspring with three or more obstetric complications according to Prechtl (1968).Using this definition, the “reproductive casualty” of 45 heterozygotes for phenylketonuria (PKU) is significantly raised (P<.001) compared with 3

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01130.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Obstetric complication was defined as three or more non‐optimal obstetric conditions as described by Prechtl. Only 22 of the 74 untreated cases with phenylketonuria (PKU) who were investigated had been delivered without obstetric complications. While more than 50 % of those PKUs achieved an IQ within the debile range, only about 20 % reached this level of intelligence when birth was associated with complication. The incidence of salaam seizures, pathological EEGs, neurological deficits, excessive vomiting and delayed development from birth also increased with increasing evidence of obstetric complications. It is concluded that obstetric complications are mainly responsible for the great variation in the clinical picture of PKU. The insufficiency of dietary treatment in achieving similar intellectual development in PKUs as in their non‐PKU sibs is probably related to this increased perinatal susceptibility of PKUs, which in turn is related to their prenatally reduced rate of growth. Even if the optimal result of dietary treatment is obtained there may be learning problems of an organic character. Taken as a whole, the prognosis concerning mental achievement was considerably better than has generally been assumed, for there were as many with IQs within the debile as within the low grade defective range. Male PKUs had a markedly reduced chance of attaining an IQ within the debile range, and this is probably due to the higher male perinatal morbid

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01131.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Numerous congenital malformations consisting of aniridia, hypertelorism, bilateral webbing of the cubital and the popliteal regions and bilateral cryptorchidism were documented in a phenotypic male infant. Severe mental retardation, bilateral cataracts, exophthalmia and glaucoma followed by complete blindness were noted by the time the child was 9 1/2 years of age.Leukocyte and fibroblast cultures were reported to show two cell lines, a majority of the cells showing a 47, XXY complement and a minority showing a 48, XXXY complement.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01132.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A 20‐year‐old 46, XY/47, XXY mosaic with azoospermia, testicular hypotrophy, low testosterone and high gonadotrophin levels had a mixed testicular dysgenesis. Histology revealed alternating tubules with germinal aplasia and tubules with spermatidic arr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01133.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A study of patients with myotonic dystrophy and their first degree relatives has shown that 17.6 % of asymptomatic individuals at risk were definitely affected on the basis of neurological and slit lamp examination, while a further 13.7 % showed suspicious but not diagnostic changes. In those individuals who were definitely affected neurologically, a high incidence of lens opacities was shown by the slit lamp, except during the first decade of life. Analysis of penetrance of the myotonic dystrophy gene in the offspring of affected individuals suggested that penetrance was largely complete by adulthood. No instance of mutation was encountered in the study, and it is suggested that undetected transmission is much more frequently responsible for the apparently isolated case than is mutation. The use in genetic counselling and prenatal diagnosis of the various methods of detecting the myotonic dystrophy gene is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01134.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Three brothers, two of them monozygous twins, had epiphyseal dysplasia particularly of the femoral head, a high degree of myopia, and perceptive hearing loss. The parents were related. The disorder may be a rare autosomal recessive condition.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01135.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY