The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings.
10.3345/kjp.2008.51.11.1241
- Author:
Young Ok KIM
1
;
Young Kuk CHO
;
En Song SONG
;
Dong Kyun HAN
;
Ic Sun CHOI
;
Hee Jo BAEK
;
Chan Jong KIM
;
Young Jong WOO
;
Young Youn CHOI
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@unitel.co.kr
- Publication Type:Case Report
- Keywords:
Partial trisomy 7q;
Partial monosomy 8p
- MeSH:
Abnormal Karyotype;
Chromosome Deletion;
Female;
Follow-Up Studies;
Humans;
Male;
Phenotype;
Siblings;
Telomere;
Trisomy
- From:Korean Journal of Pediatrics
2008;51(11):1241-1244
- CountryRepublic of Korea
- Language:English
-
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.
