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| 11. |
Total finger ridge count and 45, X mosaicism (with and without Y chromosome) |
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Clinical Genetics,
Volume 5,
Issue 1,
1974,
Page 68-71
Josephine M. Kerr,
Lillian Y. F. Hsu,
Peter Workman,
Kurt Hirschhorn,
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摘要:
We have observed that in patients with 45, X mosaicism without a Y chromosome, the influence of the 45, X cell line on the total finger ridge count (TFRC) may be pronounced enough to produet a markedly elevated count, whereas in patients with 45, X mosaicism with a Y, the TFRC may not be significantly increased. We have reviewed 21 of our cases of 45, X mosaicism (14 cases without Y and 7 cases with Y) in an attempt to test our observation. The TFRC of 14 cases of 45, X mosaicism without Y (mean of 167.3) is very significantly increased (P0.05) from the 10 normal control males (mean of 138.4). These results have thus far confirmed our hypothesis. The finding of a high TFRC may also be used as a clinical indication of the existence of a 45, X cell line in a mosaic without a Y chromosome.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1974.tb01662.x
出版商:Blackwell Publishing Ltd
年代:1974
数据来源: WILEY
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| 12. |
Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution |
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Clinical Genetics,
Volume 5,
Issue 1,
1974,
Page 72-76
Ruben Lisker,
Azyadéh Cobo de Gutiérrez,
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PDF (276KB)
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摘要:
The cytogenetic studies of a girl with Fanconi's anemia revealed that chromosome breakage was clearly increased in the peripheral blood lymphocytes, and that in the bone marrow 60 % of the cells had a structural abnormality characterized by a D group chromosome with a larger than normal long arm. It is thought that anin vivorearrangement had taken place in the past and, through clonal evolution, had increased its frequency. A complete review of the literature regarding direct cytogenetic studies of the bone marrow in Fanconi's anemia was performed and concluded that structural rearrangements are not unusual in this disease.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1974.tb01663.x
出版商:Blackwell Publishing Ltd
年代:1974
数据来源: WILEY
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| 13. |
The neck in the XO and XX/XO mosaic Turner's syndrome |
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Clinical Genetics,
Volume 5,
Issue 1,
1974,
Page 77-80
Annette Felix,
Vlastimil Capek,
Hermine M. Pashayan,
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PDF (221KB)
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摘要:
An attempt to document both the clinical appearance of the neck and the roentgenographic findings of the cervical vertebrae in 15 cytogenetically diagnosed cases of the Turner syndrome rcvealed the following findings: 11 had webbed necks, 13 patients had short necks, and of those, 10 had a short and webbed neck. Fourteen patients had a low hairline, of those, three had a short neck and a low hairline. Ten patients had a webbed and a short neck with a low hairline.Twelve patients had hypoplastic cervical vertebrae, of whom eight showed hypoplasia of all the cervical vertebrae and four showed hypoplasia of one or more cervical vertebrae.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1974.tb01664.x
出版商:Blackwell Publishing Ltd
年代:1974
数据来源: WILEY
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Volume 5 issue 1