A Case Report of Trisomy 9 Mosaicism (47,XX,+9/46,XX).
- Author:
Seung Hun LEE
1
;
Jun Young IM
;
Eui Jong HUR
;
Jin Wan PARK
;
Won Ki LEE
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Dan Kook University, Cheonan, Korea.
- Publication Type:Case Report
- Keywords:
Trisomy 9 mosaicism
- MeSH:
Cryptorchidism;
Diagnosis;
Dislocations;
Ear;
Foot;
Hand;
Heart Diseases;
Intellectual Disability;
Joints;
Karyotyping;
Male;
Microcephaly;
Mosaicism*;
Nose;
Phenotype;
Trisomy*;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2002;45(3):513-515
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A rare but typical case of trisomy 9 shows the characteristic phenotype of this syndrome: microcephaly, low-set malformed ears, micrognathia, broad nose with bulbous tip, small and up-slanting palpebral fissures, deep-set eyes, congenital heart diseases, dislocation of joints, abnormal hands and feet, cryptorchidism, micropenis, mental retardation, and growth failure. In addition to karyotyping results, ultrasound findings are important in achieving diagnosis. We experienced a case of trisomy 9 mosaicism (47,XX,+9/46,XX) and so present it with a brief review of literature.
