| The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings |
|
Young Ok Kim, Young Kuk Cho, En Song Song, Dong Kyun Han, Ic Sun Choi, Hee Jo Baek, Chan Jong Kim, Young Jong Woo, Young Youn Choi |
|
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea |
| 오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상 |
|
김영옥, 조영국, 송은송, 한동균, 최익선, 백희조, 김찬종, 우영종, 최영륜 |
|
전남대학교 의과대학 소아과학교실 |
Correspondence:
Young Ok Kim, Email: ik052@unitel.co.kr
|
|
|
|
|
| Abstract |
|
We report on 2 siblings with a partial trisomy of 7q (7q22→qter) and concomitant partial monosomy of 8p (8p23.3→pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age. |
| Key Words:
Partial trisomy 7q, Partial monosomy 8p |
|
PDF Links
Download Citation
