A Case of 2q+ Syndrome Identified by Fluorescent In Situ Hybridization
Journal of the Korean Pediatric Society
;
: 1144-1148, 1998.
Article
in Korean
| WPRIM
| ID: wpr-143494
ABSTRACT
We experienced a case of 2q+ syndrome in a neonate who had multiple congenital anomalies of long philtrum, a bow-shaped mouth, long fingers, and its second and fifth fingers overlapped with the third and the fourth. In the cytogenetic studies using G banding technique, an extra band of the distal long arm of chromosome 2 was shown. Because its extra chromosomal segment was too small and the parents' chromosome were normal, it was difficult to determine the origin of the additional segment. We could find the fluorescent signal from the extra chromosomal segment by using painting probe of chromosome 2. The karyotype of the patient was confirmed as 46, XX, 2q+. We reported the case with the review of the associated literatures.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Paint
/
Paintings
/
Arm
/
Chromosomes, Human, Pair 2
/
In Situ Hybridization, Fluorescence
/
Cytogenetics
/
Karyotype
/
Fingers
/
Lip
/
Mouth
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1998
Type:
Article
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