Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH |
| |
Authors: | Kitsiou-Tzeli Sophia Frysira Helen Giannikou Krinio Syrmou Areti Kosma Konstantina Kakourou Georgia Leze Eleni Sofocleous Christalena Kanavakis Emmanuel Tzetis Maria |
| |
Affiliation: | a Department of Medical Genetics, Medical School, University of Athens, Greeceb Research Institute for the Study of Genetic and Malignant Disorders in Childhood, “Aghia Sophia, Children's Hospital”, Athens, Greece |
| |
Abstract: | The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication syndrome demonstrated a critical region involving at least six genes, including STH and MAPT. The 17q21.31 microdeletion syndrome has an incidence of 1 in 16,000 births, while the microduplication 17q21.31 has been reported so far in only five patients. In general, phenotypes associated with 17q21.31 microduplication seem to be milder than those associated with the microdeletion. Here, we present four patients who have been referred for genetic evaluation by clinical geneticists due to developmental delay and minor congenital abnormalities. Previous standard karyotypes were negative, while aCGH analysis revealed three patients with 17q21.31 microdeletion and one with the respective microduplication, being the sixth reported case so far. Most importantly one of the microdeletion cases involves only partial MAPT gene deletion while leaving the STH gene intact. Two of our patients, one with the 17q21.31 microdeletion and another with the respective microduplication, carried additional clinically relevant microdeletions (del Xq21.31 and del 15q11.2, respectively), possibly modifying their phenotype. |
| |
Keywords: | CGH, Comparative genome hybridization CNV, Copy number variation aCGH, Array comparative genome hybridization ID, Intellectual disability DD, Developmental delay PCR, Polymerase chain reaction PWACR, Prader-Willi/Angelman Critical Region MSPCR, Methylation specific PCR OFC, Occipito-frontal circumference 3&prime UTR, 3&prime untranslated region PWS, Prader-Willi syndrome |
本文献已被 ScienceDirect PubMed 等数据库收录! |
|