Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
| ISSN: | 0340-6717 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d49dc3d3a2b9da2a48bbc2fe08373eb https://pubmed.ncbi.nlm.nih.gov/16160854 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....8d49dc3d3a2b9da2a48bbc2fe08373eb |
| Autor: | Ewa Obersztyn, Ewa Bocian, Katarzyna Borg, Tadeusz Mazurczak, Pawel Stankiewicz, James R. Lupski, Anna Kruczek |
| Rok vydání: | 2005 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Chromosomal translocation Chromosome Disorders Chromosomal rearrangement Biology Translocation Genetic Congenital Abnormalities Chromosome regions Intellectual Disability Genetics medicine Chromosomes Human Humans Genetics (clinical) Chromosome 12 In Situ Hybridization Fluorescence medicine.diagnostic_test Chromosome Chromosome Mapping Chromosome Breakage Chromosome 3 Female Chromosome 21 Fluorescence in situ hybridization |
| Zdroj: | Human genetics. 118(2) |
| ISSN: | 0340-6717 |
| Popis: | Complex chromosome rearrangements (CCRs) are extremely rare but often associated with mental retardation, congenital anomalies, or recurrent spontaneous abortions. We report a de novo apparently balanced CCR involving chromosomes 3 and 12 and a two-way translocation between chromosomes 11 and 21 in a woman with mild intellectual disability, obesity, coarse facies, and apparent synophrys without other distinctive dysmorphia or congenital anomalies. Molecular analysis of breakpoints using fluorescence in situ hybridization (FISH) with region-specific BAC clones revealed a more complex character for the CCR. The rearrangement is a result of nine breaks and involves reciprocal translocation of terminal chromosome fragments 3p24.1-->pter and 12q23.1-->qter, insertion of four fragments of the long arm of chromosome 12: q14.1-->q21?, q21?-->q22, q22-->q23.1, and q23.1-->q23.1 and a region 3p22.3-->p24.1 into chromosome 3q26.31. In addition, we detected a approximately 0.5-Mb submicroscopic deletion at 3q26.31. The deletion involves the chromosome region that has been previously associated with Cornelia de Lange syndrome (CdLS) in which a novel gene NAALADL2 has been mapped recently. Other potential genes responsible for intellectual deficiency disrupted as a result of patient's chromosomal rearrangement map at 12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF). |
| Databáze: | OpenAIRE |
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