The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings / 소아과
Korean Journal of Pediatrics
; : 1241-1244, 2008.
Article
в En
| WPRIM
| ID: wpr-18357
Ответственная библиотека:
WPRO
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
Полный текст:
1
База данных:
WPRIM
Основная тема:
Phenotype
/
Trisomy
/
Follow-Up Studies
/
Chromosome Deletion
/
Telomere
/
Siblings
/
Abnormal Karyotype
Тип исследования:
Observational_studies
/
Prognostic_studies
Пределы темы:
Female
/
Humans
/
Male
Язык:
En
Журнал:
Korean Journal of Pediatrics
Год:
2008
Тип:
Article