The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
김영옥(전남대학교); 조영국(전남대학교); 송은송(전남대학교); 한동균(전남의대); 최익선(전남의대); 백희조(전남의대); 김찬종(전남대학교); 우영종(전남대학교); 최영륜(전남대학교)
51권 11호, 1241~1244쪽
초록
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.
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.
- 발행기관:
- 대한소아청소년과학회
- 분류:
- 소아과학