Clinical and Molecular Characterization of a Combined 17p13.3 Microdeletion with Partial Monosomy 21q21.3 in a 26-Year-Old Man
| Autor: | I. Benabdallah, N. Mama, Audrey Labalme, Ali Saad, H. Elghezal, I. Hamdi, Soumaya Mougou-Zerelli, H. Hannachi, Damien Sanlaville |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Monosomy Chromosomes Human Pair 21 Lissencephaly Chromosomal translocation Biology Chromosome aberration Translocation Genetic Craniofacial Abnormalities Intellectual Disability Genetics medicine Humans Abnormalities Multiple Molecular Biology YWHAE In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human Pair 13 Brain Karyotype medicine.disease Chromosome 17 (human) Karyotyping Atrophy Chromosome Deletion Chromosome 21 Chromosomes Human Pair 17 |
| Zdroj: | Cytogenetic and Genome Research. 135:102-110 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000330880 |
| Popis: | We led a clinical and molecular characterization of a patient with mild mental delay and dysmorphic features initially referred for cytogenetic exploration of an azoospermia. We employed FISH and array CGH techniques for a better definition and refinement of a double chromosome aberration associating a 17p microdeletion with partial monosomy 21q due to 1:3 meiotic segregation of a maternal reciprocal translocation t(17;21)(p13.3;q21.2) revealed after banding analysis. Brain MRI depicted partial callosal and mild diffuse cerebral atrophies, but without expected signs of lissencephaly. The patient’s karyotype formula was: 45,XY,der(17)t(17;21)(p13.3;q21.2)mat,–21. FISH study confirmed these rearrangements and array CGH analysis estimated the loss sizes to at least 635 kb on chromosome 17 and to 15.6 Mb on chromosome 21. The absence of lissencephaly and major brain malformations often associated with 17p terminal deletions could be attributed to the retention of PAFAH1B1, YWHAE and CRK genes. Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region. Azoospermia should result from gamete apoptosis induced by a control mechanism triggered in response to chromosome imbalances. Our study provides an additional case for better understanding and delineating both 17p and 21q deletions. |
| Databáze: | OpenAIRE |
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