Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review
| Autor: | Jesús María Hernández-Rivas, Juan Luis García, César Paz-y-Miño, Paola E. Leone, Stella D Verdezoto, Ana Proaño |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
lcsh:Internal medicine Microcephaly lcsh:QH426-470 Ring chromosome Chromosome Disorders Case Report 030105 genetics & heredity Biology Ring (chemistry) Short stature 03 medical and health sciences FISH Genetics medicine Humans Ring Chromosomes lcsh:RC31-1245 Child In Situ Hybridization Fluorescence Genetics (clinical) Low-set ears inv dup del rearrangement medicine.diagnostic_test Karyotype medicine.disease Human genetics lcsh:Genetics 030104 developmental biology Karyotyping Cytogenetic Analysis Female Chromosomes Human Pair 4 medicine.symptom 46 XX r(4)(p16.3q35.2) Mosaic Mapping array Ring chromosome 4 Fluorescence in situ hybridization |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019) |
| ISSN: | 1755-8794 |
| Popis: | Background Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. Case presentation A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was clinically, cytogenetically and molecularly analysed. Clinical examination revealed congenital anomalies, including microcephaly, prominent nose, micrognathia, low set ears, bilateral clinodactyly of the fifth finger, small sacrococcygeal dimple, short stature and mental retardation. Cytogenetic studies showed a mosaic karyotype, mos 46,XX,r(4)(p16.3q35.2)/46,XX, with a ring chromosome 4 from 75 to 79% in three studies conducted over ten years. These results were confirmed by fluorescence in situ hybridization (FISH). Loss of 1.7 Mb and gain of 342 kb in 4p16.3 and loss of 3 Mb in 4q35.2 were identified by high-resolution mapping array. Conclusion Most cases with ring chromosome 4 have deletion of genetic material in terminal regions; however, our case has inv dup del rearrangement in the ring chromosome formation. Heterogeneous clinical features in all cases reviewed are related to the amount of genetic material lost or gained. The application of several techniques can increase our knowledge of ring chromosome 4 and its deviations from typical “ring syndrome.” |
| Databáze: | OpenAIRE |
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