摘要:

The activity of platelet monoamine oxidase in Down's syndrome cases was significantly lower than that of controls. This difference was found for both males and females, and with tyramine, tryptamine and β‐phenethylamine as substrate. The Kmvalues of the monoamine oxidase towards tryptamine as substrate from controls and Down's syndrome patients were simil

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00716.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00717.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, Polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25 % recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00718.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Two familial G‐band variants of the short arm of chromosome 9 are described. One is associated with C‐band material, but the other is not and appears to involve euchroma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00719.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Pretreatment of PHA‐stimulated lymphocyte cultures from normal males with 100 (μg/ml Distamycin A for the final 24 h of incubation led to a striking decondensation of the heterochromatic portion of the long arm of the Y chromosome. The despiralized region of Yq maintained its fluorescent properties in this altered morphologic state. Two cases of Y chromosome translocation (Y/22 and Y/X) were identified with this technique. A review of the literature revealed 62 similar cases in which the phenotypic‐karyotypic correlations were instrumental in the prenatal counselling of the family with the Y/22 transloca

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00720.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A male patient with typical Klinefelter syndrome features was found to have a 47, XXq‐Y chromosome complement. The X chromosome with the deletion was late‐replicating. We suggest that the region q11→22 of the extra X chromosome is important for expression of the Klinefelter phen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00721.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00722.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00723.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00724.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Mean DA receptor number in rats rises markedly after chronic haloperidol treatment, and this rise is accompanied by a significantly increased variance. The rise in DA receptor number has been proposed as a molecular model of human tardive dyskinesia. Since human tardive dyskinesia may involve pharmacogenetic susceptibility, ten inbred mouse strains were treated for 3 weeks with haloperidol and caudate DA receptor number was determined 4 days after cessation of feeding. Some strains showed much larger rises in DA receptor number than others, supporting the notion that genetic factors may be involved in the susceptibility to large DA receptor responses to chronic haloperidol.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00725.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY