摘要:

One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and saliva correlated in 98 % of cases. It is felt that contamination with blood is likely to be the main source of error in typing amniotic fluids. However, because of the weaker activity of the anti‐H serum, the detection of the presence or absence of H‐substance can be doubtful if duplicate tests are not carried out. It is recommended that all fluids be checked for contamination with blood and that duplicate assays be done on two successive occasions. If these precautions are taken, the secretor typing of the amniotic fluid accurately reflects the secretor status of the individual foetus. Though probably not of wide application, the test could be of value in prenatal detection of dystrophia myotonica in individual ca

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01018.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

We present the case of a 66‐year‐old XX male who developed breast cancer on the left side at the age of 61. His clinical, endocrinological and cytogenetic features are described. The presence of hypospadias and cancer in the left breast are noteworthy; the latter is very rarely found in Klinefelter syndrome patients. An outline of the pathogenesis of breast cancer in XX male patients is also given. This is the first report of an XX male with breast can

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01019.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The authors present a pedigree with amyotrophic lateral sclerosis in five generations. Dominant transmission with incomplete penetrance is likely.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01020.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Karyotyping of 3011 males at five Wisconsin state correctional institutions revealed that 1 % had a chromosome abnormality. The frequency of occurrence of the XYY complement was about 5 times that for newborn males. Approximately the same rate was found among 2556 males in the three penal institutions for adults. The frequency of XYY at the institution for juvenile offenders was about ten times background. The relatively low frequency of XYY (0.38%)found at the mental‐penal institution may have been due to previous sampling done there. Of the 16 XYY males discovered, only two were below the 85th percentile for height. A relatively low frequency of XYY was found among black males. Our data contradict the notion that a high rate for XYY among adult males in penal settings may be due to a disproportionately large number of tall men in prison

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01021.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A 14‐year‐old boy with malignant lymphoma was identified as having Bloom's syndrome after he was shown to display a characteristically elevated frequency of spontaneous sister‐chromatid exchanges. Frequencies of sister‐chromatid exchanges per nucleus were 80.7 in blood lymphocytes and 29.9 in dermal fibroblasts. Clinical features, although suggestive of Bloom's syndrome, were not clear enough to permit the diagnosis. This is the first confirmed case of this rare genetic disorder in Japan, and

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01022.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Assays ofin vitrobiological properties associated with cellular transformation revealed differences in cultured skin cells within the heritable colon cancer syndromes with and without polyposis coli. Such evidence suggested that anin vitropanel of biological assays could be used to recognize genotypes which increase the risk of colon cancer prior to clinical expression and supported the concept, long assumed on clinical differences, of genetic heterogeneity within the heritable colon cancer syndromes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01023.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A patient is reported whose only two pregnancies resulted in phenotypically and geno‐typically female infants with camptomelic syndrome of the long‐limbed variety. Both infants died within a few minutes of bi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01024.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer‐Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th finger

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01025.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01026.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb01027.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY