A Case of 45,X/46,X,dic(X) (qter→p22::p22→qter) with Tuner's Phenotype in a Japanese Girl
Hiroshima Journal of Medical Sciences Volume 37 Issue 2
Page 51-55
published_at 1988-06
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| File | |
| Title ( eng ) |
A Case of 45,X/46,X,dic(X) (qter→p22::p22→qter) with Tuner's Phenotype in a Japanese Girl
|
| Creator |
Takenaka Masaaki
Teramoto Hideki
Ueda Katsunori
Fujiwara Atsushi
Ohama Koso
Nishi Yoshikazu
|
| Source Title |
Hiroshima Journal of Medical Sciences
|
| Volume | 37 |
| Issue | 2 |
| Start Page | 51 |
| End Page | 55 |
| Journal Identifire |
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
|
| Abstract |
A 13-year-old Japanese girl with a karyotype of 45,X/46,X,dic(X) (qter→p22::p22→qter) and clinical features of short stature, webbed neck, pectus excavatum and gonadal dysgenesis is described. The dic(X) chromosome was late replicating and assumed to be formed during the first mitotic division. Review of 17 previously published cases with a dic(X) (qter→p22::p22→qter) and the present case revealed no relationship between the phenotype and the percentage of 45,X cells. Therefore, the difference in volume and the part of the chromatin lost by forming a dic(X) chromosome may be mainly responsible for the expression of the phenotype.
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| Keywords |
Turner's syndrome
X chromosome
Dicentric chromosome
|
| NDC |
Medical sciences [ 490 ]
|
| Language |
eng
|
| Resource Type | departmental bulletin paper |
| Publisher |
Hiroshima University Medical Press
|
| Date of Issued | 1988-06 |
| Publish Type | Version of Record |
| Access Rights | open access |
| Source Identifier |
[ISSN] 0018-2052
[NCID] AA00664312
[PMID] 3170251
|
