A case of trisomy 6p due to maternal balanced translocation.
- Author:
Kang Wook LEE
1
;
Mi Kyung KIM
;
Young Sook KIM
;
O Kyung LEE
Author Information
1. Department of Pediatrics, Presbyterian Medical Center, Jeonju, Korea. okleepmc@jesushospital.com
- Publication Type:Case Report
- Keywords:
Trisomy 6p;
Chromosome
- MeSH:
Chromosomes, Human, Pair 6;
Craniofacial Abnormalities;
Fathers;
Genes, vif;
Humans;
Infant, Low Birth Weight;
Infant, Newborn;
Karyotype;
Male;
Syndactyly;
Trisomy
- From:Korean Journal of Perinatology
2008;19(3):318-321
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Trisomy 6p is an extremely rare disorder, in fact approximately 42 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(6;14), thus the offspring inherit such a gene. In this report, the mother's chromosomal arrangement was 46, XX, t(6;14)(p21.1;q32) and the father had a normal chromosomal arrangement. We experienced a case of trisomy 6p in a male neonate who had low birth weight, craniofacial abnormalities, sacral dimple and syndactyly. The karyotype of his chromosome was 46, XY, der(14)t(6;14) (p21.1;q32). We report the case with the review of the associated literatures.
