Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome
| Autor: | Reinhard Ullmann, Nuran Sabir, Dilihan Gumus, Mine Cinbiş, Anne Steininger, Baki Yagci, Osvaldo M. Mutchinick, Emre Tepeli, C. Nur Semerci, Muhterem Bahçe, Serap Özden, Jazmín Arteaga |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Monosomy Clinodactyly Aneuploidy Trisomy Biology Translocation Genetic Young Adult Pregnancy Genetics medicine Humans Hypertelorism Child In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human X Comparative Genomic Hybridization Chromosomes Human Pair 12 medicine.diagnostic_test Infant Newborn Cytogenetics Syndrome Telomere medicine.disease Phenotype Child Preschool Karyotyping Chromosomes Human Pair 6 Female medicine.symptom Fluorescence in situ hybridization Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :1724-1729 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.33383 |
| Popis: | We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes. |
| Databáze: | OpenAIRE |
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