A Case of 2q+ Syndrome Identified by Fluorescent In Situ Hybridization.
- Author:
Hong Hee LIM
1
;
Soo Sung PARK
;
Jong Won LEE
;
Eun Ryoung KIM
;
Mi Uk JIN
;
Nam Soo PARK
;
IL Soo KIM
Author Information
1. Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
2q+ syndrome;
Multiple congenital anomalies;
Fluorescent in situ hybridization (FISH)
- MeSH:
Arm;
Chromosomes, Human, Pair 2;
Cytogenetics;
Fingers;
Humans;
In Situ Hybridization, Fluorescence*;
Infant, Newborn;
Karyotype;
Lip;
Mouth;
Paint;
Paintings
- From:Journal of the Korean Pediatric Society
1998;41(8):1144-1148
- CountryRepublic of Korea
- Language:Korean
-
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.
