| A case of Trisomy 8 mosaicism |
|
Hong-Ro Lee1, Byung-Geun Lee1, Soo-Chul Cho1, Dae Yeol Lee1, Jung Soo Kim1, So Ja Jin2 |
1Department of Pediatrics, Chonbuk National University Medical School, Chonju, Korea
2Department of Obstrtric and Gynecology, Chonbuk National University Medical School, Chonju, Korea |
| 8삼체성 Mosaicism 1례 |
|
이홍로1, 이병근1, 조수철1, 이대열1, 김정수1, 진소자2 |
1전북대학교 의과대학 소아과학교실
2전북대학교 의과대학 산부인과학교실 |
|
|
|
|
| Abstract |
|
This paper presents clinical manifestations and result of cytogenetic examination of a patient with trisomy 8 mosaicism syndrome.
Characteristic features include hypertelolism, deep set eyes, anteverted nose, narrow pelves, hypospadia, camptodactyly and deep skin crease and furrows.
Karyotyping and chromosomal analysis revealed 47 XY, + 8 mosaicism. A brief review of literature was presented. |
| Key Words:
Trisomy 8 mosaicism |
|
PDF Links
Download Citation
