Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents.
10.3349/ymj.2005.46.2.284
- Author:
Yong Gon CHO
1
;
Tae Won PARK
;
Chang Seop LEE
;
Sam Im CHOI
Author Information
1. Department of Laboratory Medicine, Chonbuk National University Medical School and Research Institute of Clinical Medicine, Chonbuk National University, Jeonju, Korea. choisi11@hanmail.net
- Publication Type:Case Report
- Keywords:
Trisomy 21;
ring 21;
mental retardation
- MeSH:
Child;
*Chromosome Aberrations;
*Chromosomes, Human, Pair 21;
Cytogenetic Analysis;
*Down Syndrome;
Female;
*Gene Deletion;
Humans;
Karyotyping;
Mental Retardation/genetics;
Mosaicism;
Mothers;
Parents;
*Siblings
- From:Yonsei Medical Journal
2005;46(2):284-288
- CountryRepublic of Korea
- Language:English
-
Abstract:
We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.
