A Case of Triple X Syndrome.
- Author:
Jung Hyun KIM
1
;
Kyung Tae HWANG
;
Kyong Og KO
;
Eun Ju KIM
;
Yun Duk YOO
Author Information
1. Department of Pediatrics, Sun General Hospital, Taejeon, Korea.
- Publication Type:Case Report
- Keywords:
Triple X syndrome;
Neonate
- MeSH:
Adolescent;
Echocardiography;
Female;
Heart Septal Defects, Atrial;
Heart Septal Defects, Ventricular;
Humans;
Incidence;
Infant, Newborn;
Lip;
Nose;
Puberty;
Trisomy
- From:Journal of the Korean Society of Neonatology
1999;6(2):249-252
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Since Jacob and associates in 1959 were the first to report a case of triple X syndrome associated with ovarian failure, the incidence of trisomy X in newborn population is estimated to be 1 in 1,000 live born female. Most of them have normal physical appearance and puberty. We report a case of a newborn with triple X syndrome confirmed by chromosomal study whose clinical features included left preauricular pit, broad nose, thin lip, anogenital anomaly. Echocardiography showed atrial septal defect and ventricular septal defect.
