Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH.
- Author:
Cha Gon LEE
1
;
Jun No YUN
;
Sang Jin PARK
;
Young Bae SOHN
Author Information
- Publication Type:Case Report
- Keywords: Array CGH; Mosaicism; Trisomy 14; Developmental delay; Intellectual disability
- MeSH: Chromosome Aberrations; Chromosomes, Human, Pair 14; Comparative Genomic Hybridization; Cytogenetics; DNA Copy Number Variations; Heart Diseases; Humans; Hypogonadism; Intellectual Disability; Karyotype; Karyotyping; Mitochondrial Diseases; Mosaicism; Ophthalmoplegia; Phenotype; Skin; Trisomy
- From:Journal of Genetic Medicine 2013;10(1):52-56
- CountryRepublic of Korea
- Language:English
- Abstract: Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.
