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| 1. |
A linkage study of the HLA region using C‐band heteromorphisms |
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Clinical Genetics,
Volume 23,
Issue 3,
1983,
Page 177-185
Laurie A. Polacek,
Ruth B. Phillips,
Susan A. Hackbarth,
Rene J. Duquesnoy,
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摘要:
A linkage study was performed to establish the map distance from the HLA region to the centromere on 6p. In this study, seven families were investigated for the segregation of their HLA types and a polymorphic C‐band marker on chromosome 6. Four out of 29 children were found to be recombinants. A map distance of 14 cM was determined. Ninety‐five percent confidence limits for the recombination frequency were established (0.012 ≤θ
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb01869.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 2. |
Karyotype 47, XXY,18p‐ in a newborn child with holoprosencephaly |
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Clinical Genetics,
Volume 23,
Issue 3,
1983,
Page 186-190
R. Schnabel,
S. Hansen,
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摘要:
This may be the first reported case of a 47, XXY,18p— (“Klinefelter‐de Grouchy I syndrome”), in a post‐term male neonate. The child had a dysmorphic facies, a small nose with a single orifice, cranial malformations and an alobar holoprosencephaly. These symptoms corresponded with the known phenotypic variants of the simple 18p— anomaly. The karyotypes of both parents
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb01870.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 3. |
Partial trisomy 2q |
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Clinical Genetics,
Volume 23,
Issue 3,
1983,
Page 191-194
Robert E. Schumacher,
Albert P. Rocchini,
Golder N. Wilson,
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PDF (366KB)
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摘要:
An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb01871.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 4. |
ABSTRACTS |
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Clinical Genetics,
Volume 23,
Issue 3,
1983,
Page 196-256
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PDF (3919KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb01872.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 5. |
Author Index |
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Clinical Genetics,
Volume 23,
Issue 3,
1983,
Page 257-259
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PDF (116KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb01873.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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