Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
| Autor: | M, Rio, G, Royer, S, Gobin, M C, de Blois, C, Ozilou, A, Bernheim, M, Nizon, A, Munnich, J-P, Bonnefont, S, Romana, M, Vekemans, C, Turleau, V, Malan |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Recombination
Genetic Comparative Genomic Hybridization Genotype Mosaicism Developmental Disabilities Membrane Proteins Muscle Proteins Nerve Tissue Proteins Twins Monozygotic Phenotype Child Preschool Chromosomes Human Pair 2 Karyotyping Diseases in Twins Humans Female Autistic Disorder In Situ Hybridization Fluorescence Transcription Factors |
| Zdroj: | Clinical genetics. 84(1) |
| ISSN: | 1399-0004 |
| Popis: | Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4-year-old female monozygotic twins with discordant phenotypes. Twin 1 exhibited global developmental delay, overweight and hyperactivity. Twin 2 had an autistic spectrum disorder. Molecular karyotyping in twin 1 identified a 2p25.3 deletion, further confirmed by Fluorescence in situ hybridization (FISH) analysis on leukocytes. Interestingly, array comparative genomic hybridization was normal in twin 2 but FISH analysis using the same probe as twin 1 showed mosaicism with one-third of cells with a 2p25.3 deletion, one-third of cells with a 2p25.3 duplication, and one-third of normal cells. Genotyping with microsatellite markers confirmed the monozygosity of the twins. We propose that the chromosome imbalance may be due to a mitotic non-allelic recombination occurring during blastomeric divisions of a normal zygote. Such event will result in three distinct cell populations, whose proportion in each embryo formed after separation from the zygote may differ, leading to discordant chromosomal anomalies between twins. We also discuss that the MYTL1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text