J Genet Med.  2013 Jun;10(1):52-56. 10.5734/JGM.2013.10.1.52.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

• Lee CG
• Yun JN
• Park SJ
• Sohn YB

• KMID: 2055580
• DOI: http://doi.org/10.5734/JGM.2013.10.1.52

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.

Keyword

Array CGH; Mosaicism; Trisomy 14; Developmental delay; Intellectual disability

MeSH Terms

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
Chromosomes, Human, Pair 14
Hypogonadism
Mitochondrial Diseases
Ophthalmoplegia
Trisomy