| Autor: |
Inglot, Jadwiga, Bednarz, Karol, Inglot, Julia, Kłosowicz, Maksymilian |
| Předmět: |
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| Zdroj: |
European Journal of Clinical & Experimental Medicine; 2023 Supplement, p45-45, 1p |
| Abstrakt: |
Introduction and aim. Structural chromosome aberrations result from the breakage of one or more chromosomes and the abnormal joining of their fragments during cell division. Unbalanced chromosome aberrations lead to a loss or gain of genetic material. The incidence of chromosome aberrations among live-born children is estimated at 0.5%. Chromosome aberrations can occur spontaneously or under the influence of mutagenic agents such as ionizing radiation, ultraviolet radiation or high temperature. Duplication is the doubling of a chromosome fragment, while deletion is the loss of a chromosome fragment. Description of the case. This report discusses a case of an 11-year-old boy, who was referred to a genetic clinic, after a multi-specialist consultation. The patient was found to have an unbalanced translocation associated with a duplication of a fragment of the long arm of chromosome 3 in the q26.3 region and a deletion of a fragment of the short arm of chromosome 8, region p23.1. The aberration is the result of a balanced translocation in the mother. The analyzed karyotype of the father is normal. Chromosome analysis using whole-genome microarray with oligonucleotide probes revealed a duplication involving 111 OMIM genes and a deletion involving 16 OMIM genes. The identified aberration, in the form of deletion and duplication, is responsible for the patient's abnormalities as delayed motor development and speech, autism, motor stereotypy and dysmorphic features. The child requires especially attentive care of parents and constant stimulation of psychomotor development under the professional care of relevant specialists. Conclusion. Further studies to understand the genetic basis of the abnormalities and the resulting phenotypic symptoms of patients with an unbalanced chromosomal aberration in the form of der(8)t(3;8)(q26.3;p23.1), will identify more patients and allow for an improvement in the treatment regimens. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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