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
in English
| WPRIM
| ID: wpr-18357
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Trisomy
/
Follow-Up Studies
/
Chromosome Deletion
/
Telomere
/
Siblings
/
Abnormal Karyotype
Type of study:
Observational study
/
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2008
Type:
Article
Similar
MEDLINE
...
LILACS
LIS