Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
نویسندگان
چکیده
before and after birth, mental retardation, developmental delay, cardiac anomalies, minor anomalies of genitalia in boys, abnormal skin pigmentation and dysmorphic features. 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. In particular, an international consensus statement has now recommended array CGH as a first-line test in patients with unexplained developmental delay, intellectual disability and dysmorphisms. However, the ability of array CGH is limited in case of low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of the first case in Korea to show lowfrequency mosaicism of trisomy 14, diagnosed by array CGH analysis supplemented with karyotyping. Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
منابع مشابه
O-27: Genome Instabilities in Preimplantation Development Leading to Genetic Variation between Tissues of Normal Human Fetuses
Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...
متن کاملI-35: Polar Body Analysis by Array CGH Identifies Women with Varying Susceptibility to Aneuploidy and Suggests that Non-disjunction Is Not The Predominant Mechanism Leading to Aneuploidy in Humans
Background: The maternal age effect for trisomy is well known. However what is less established is whether certain women are more (or less) prone to segregation errors, independent of age. Trisomy arises primarily through maternal meiosis I chromosome segregation errors however the precise mechanism by which these errors occur is unclear. Current dogma attributes the origin of trisomy to malseg...
متن کاملSemiconductor Sequencing Analysis of Chromosomal Copy Number Variations in Spontaneous Miscarriage
BACKGROUND Array CGH is the criterion standard for identifying copy number variations (CNV), but the restrictive requirement of DNA quality and relatively high cost prevent the use of this method as a general assay in hospitals in developing countries. Our principal objective was to determine whether the semiconductor sequencing platform (SSP) could be an alternative method in CNV detection for...
متن کاملInvestigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.
BACKGROUND/AIM To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. MATERIALS AND METHODS This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. RESULTS Karyotype analysis showed tri...
متن کاملEvidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing†
OBJECTIVE The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10-16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next-generation sequencing (NGS). METHOD Nucleated cells from 30 mL of blood collected at 10-16 weeks' gestation were separated from red cells by densi...
متن کامل