Autosomal Fragile Site at 2q13 in a Proband with Mental Retardation
Hiroshima Journal of Medical Sciences Volume 39 Issue 1
Page 19-21
published_at 1990-03
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| File | |
| Title ( eng ) |
Autosomal Fragile Site at 2q13 in a Proband with Mental Retardation
|
| Creator |
Kumada Toshio
Kadotani Tetsuji
Kanata Suzue
Watanabe Yoko
Kurosaki Noriko
Toi Osam
|
| Source Title |
Hiroshima Journal of Medical Sciences
|
| Volume | 39 |
| Issue | 1 |
| Start Page | 19 |
| End Page | 21 |
| Journal Identifire |
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
|
| Abstract |
Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.
|
| Keywords |
Fragile site
Mental retardation
Fra(2)(q13)
|
| Descriptions |
This study was received financial aid from the Japan Academy.
|
| NDC |
Medical sciences [ 490 ]
|
| Language |
eng
|
| Resource Type | departmental bulletin paper |
| Publisher |
Hiroshima University Medical Press
|
| Date of Issued | 1990-03 |
| Publish Type | Version of Record |
| Access Rights | open access |
| Source Identifier |
[ISSN] 0018-2052
[NCID] AA00664312
[PMID] 2373639
|
