A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation.
- Author:
Eun Jeong SONG
1
;
Yoon Yung JANG
;
Hye Jin PARK
;
Kye Hyang LEE
;
Kyung Hun LEE
;
Eun Jin CHOI
;
Jin Kyung KIM
;
Hai Lee CHUNG
;
Eok Su SEO
;
Woo Taek KIM
Author Information
1. Department of Pediatrics, School of Medicine, Catholic University of Daegu, Gyeongju, Gyungsangbookdo, South Korea. wootykim@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Monosomy 6q;
Trisomy 14q;
Maternal balanced translocation
- MeSH:
Chromosome Deletion;
Chromosomes, Human, Pair 6;
Fetal Growth Retardation;
Humans;
Infant, Newborn;
Trisomy
- From:Korean Journal of Perinatology
2009;20(2):163-166
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not been reported around the world. The authors experienced a case of partial monosomy 6q and partial trisomy 14q derived from maternal reciprocal balanced translocation t (6;14) in a neonate with multiple anomalies including intrauterine growth retardation, facial and cardiac anomalies. We report the case with a brief review of associaed lieratures.
