|
|
| 11. |
A Weaver‐like syndrome in a Japanese boy |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 73-78
Masato Tsukahara,
Suguru Tanaka,
Tadashi Kajii,
Preview
|
PDF (465KB)
|
|
摘要:
A 5½‐year‐old Japanese boy with a Weaver‐like syndrome is reported. In addition to pre‐ and post‐natal overgrowth, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome. These unusual features included mongoloid slanting of the palpebral fissures, cleft lip, accessory nipples, pectus excavatum, a bifid xyphoid process, irregularly shaped vertebral bodies, inflexible right thumb, clinodactyly of the fifth fingers, abnormal dermatoglyphic patterns and deep plantar furrows. His carpal bone age corresponded to his chronological age, while the tubular bone age was a
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00466.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
| 12. |
46, X, i(Xq)/45, X mosaicism with gonadal dysgenesis associated with 21p‐ |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 79-83
Magdolna Gaál,
A. Tóth,
P. Bösze,
J. László,
Preview
|
PDF (411KB)
|
|
摘要:
This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00467.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
| 13. |
Cytogenetics of ring chromosome 7 |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 84-85
Celia D. DeLozier‐Blanchet,
Rita Guenin,
Preview
|
PDF (131KB)
|
|
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00468.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
| 14. |
Mohr syndrome variant or Joubert‐Boltshauser syndrome? |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 86-87
J. Egger,
M. Baraitser,
Preview
|
PDF (90KB)
|
|
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00470.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
| 15. |
ESHG Symposium: Cancer and Genetics in 1984 Essen, 1–3 June, 1984 |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 88-88
Preview
|
PDF (39KB)
|
|
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00471.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
| 16. |
The Human Gene Map 15 November 1983 |
| |
Clinical Genetics,
Volume 25,
Issue 1,
1984,
Page 89-123
Preview
|
PDF (1666KB)
|
|
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1984.tb00472.x
出版商:Blackwell Publishing Ltd
年代:1984
数据来源: WILEY
|
|
首页
Volume 25 issue 1