摘要:

An 18‐month‐old patient with juvenile hypophosphatasia and cleidocranial dysostosis is reported. Fifty‐three of the 83 members of the family were examined biochemically, and among these were found four homozygotes and 25 heterozygotes for hypophosphatasia. No additional cases of cleidocranial dysostosis were found either in the family or in a screening

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00645.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Seventy‐six cases ofde novotranslocation Down's syndrome had 101 siblings, none with Down's syndrome. The risk to the parents of ade novotranslocation Down's syndrome child of subsequently having another child with Down's syndrome is, therefore, taken to be less than 1/101. It is emphasized that this estimate is based on a heterogeneous material. Aspects of the formation of the translocation chromosome are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00646.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

In Western Norway, two types of hereditary spastic paraplegia (HSP) were found: one type segregating as an autosomal dominant, and the other type behaving as an autosomal recessive trait. Within the last category, an infantile type might be defined, with more marked CNS affection than usual (dementia, epilepsy, cerebellar signs). In two of five families with autosomal recessive HSP, retinitis pigmentosa was found in the affected persons. Muscular atrophy was frequently found in both types of HSP, but was more pronounced in the recessive form. Cerebellar signs and cerebral/mental dysfunction also occurred relatively frequently in recessive cases.In three kindreds where HSP segregated as a dominant trait, 38 family members were examined. Of these, 23 were affected, four had unspecific neuropathy (Un), and 11 were unaffected. In five families where HSP behaved as a recessive trait, 61 family members were examined. Eleven were affected, 19 had Un, and 31 were unaffected. In the diagnosis of Un, a score system was used recording all types of neurological sign. The scores were corrected for age and sex differences based on findings in a normal population.Estimated prevalence in the area studied was 12/100,000 for autosomal dominant HSP and 2/100,000 for autosomal recessive HSP. There was a high consanguinity rate in the recessive families, so the prevalence here does not reflect the general gene frequency, which was estimated to be 1 · 2.10‐4(9.7.10‐5in dominant HSP). The distribution of Un in HSP families suggested different etiologies. Ratios in the recessive HSP families indicated Un to be a heterozygous manifestation. The prevalence in dominant families fitted the hypothesis that Un occurs here as a polygenic trait. Clinical differences in Un also supported these conclus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00647.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The results of amniocenteses performed in connection with prenatal chromosome determinations in 219 pregnant women are reported with regard to the risks involved in sample‐taking. Two hundred and twelve of the 219 pregnant women were given correct information as to the expected child's chromosome constitution by means of the prenatal analysis. In five cases the chromosome determination was unsuccessful and no new amniocentesis was carried out. In two cases where the amniocentesis was unsuccessful the women did not return for a new attempt to take a sample. Three deviating karyotypes are reported among the 212 successful chromosome determinations: one case of trisomy‐21, one of trisomy‐18 and one case of partial trisomy for chromosome no. 14. Prenatal chromosome determination is a safe and reliable method of investigation which permits the diagnosis of chromosomal deviations of the expected child early enough during the pregnancy to permit a legal abortion to be carried out if de

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00648.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Normal/trisomy 21 mosaicism was demonstrated in the father of a girl with Down's syndrome. During the next pregnancy, amniocentesis and karyotyping of the fetus were conducted. The fetus proved to be healthy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00649.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A family is presented in which three of four children died with an almost identical syndrome. It started within a week or so of birth and presented as bloody diarrhea with a very swollen abdomen. All died after some weeks: autopsy revealed ulcerative colitis in two and pseudo‐membranous entero‐colitis in the third. The parents were second cousins There may have been a milk intolerance. The disease is apparently due to an autosomal recessive g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00650.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Study of the buccal smear from an XYY individual revealed the Y‐chromatin fluorescence to be single, double, split or a combination of single and split in 16, 53, 12 and 4 per cent of the nuclei, respectively. In 3 per cent of the nuclei, unidentifiable multiple fluorescing bodies were present. Fluorescence size was quantitated by ocular micrometric measurement

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00651.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The buccal smear is an excellent specimen in which to screen interphase nuclei for the fluorescent stained Y‐chromosome. Not only is the specimen easily obtained and processed, but the Y‐chromatin stands out prominently in condensed form. Fluorescence size is quantitated by ocular micrometric measureme

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00652.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Measurements were made of the maximum motor nerve conduction in the median and ulnar nerves of the right forearm for the four sex chromosomally abnormal groups 47, XXY and 48, XXYY males, 47, XXX and 45, X females. The results obtained were compared with male and female control groups (a) from the general population and (b) from a subnormality hospital. No significant differences were detected between the corresponding results for 47, XXY males and subnormal males. The results for the 47, XXY males were different from those for normal and subnormal females, except in the case of motor conduction in the median nerve for the subnormal female group. There is a suggestion of marked differences in motor conduction and distal latency in 48, XXYY males when compared to the two male control groups. 47, XXX females showed significant differences in motor conduction and distal latency when compared to normal females, but not when compared to subnormal females. No significant differences were detected between 45, X females and normal females for any of the variables measured.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00653.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Xgalinkage data on a large family with Reifenstein's syndrome is reported. The pedigree was analyzed directly and the data were combined with that from the other linkage study in the literature to allow a numerical estimate of the likelihood of the recombination fraction, based on all the linkage data available. It was concluded that there is not close linkage between Xgaand Reifenstein's syndrome. A suggestion was, however, found of tight linkage between the genes for color blindness and Reifenstein's syndrome, but this result was not definite because of the small amount of data available.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00654.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY