Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome
| Autor: | Ghada Mohamed Elhady, Soha F. Kholeif, Nahla Nazmy, Esraa Refaat |
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| Rok vydání: | 2019 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities business.industry Infant Robertsonian translocation Chromosomal translocation In situ hybridization medicine.disease_cause Translocation Genetic Pedigree Pediatrics Perinatology and Child Health Gene duplication Centromere DiGeorge Syndrome Humans Medicine Female Deletion syndrome In patient business In Situ Hybridization Fluorescence Reciprocal |
| Zdroj: | The Turkish Journal of Pediatrics. 61:780 |
| ISSN: | 0041-4301 |
| DOI: | 10.24953/turkjped.2019.05.020 |
| Popis: | Nazmy N, Elhady G, Refaat E, Kholeif S. Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome. Turk J Pediatr 2019; 61: 780-785. We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric chromosomes t(14;22)(q13;q11.2), the mother of patient 1 was the first cousin of the father of patient 2. Fluorescent in situ hybridization confirmed the cytogenetic results. The patients showed dysmorphic features and developmental delay with evident intrafamilial phenotypic variability. Reciprocal non robertsonian translocation is a rare event, and has not been reported in patients with 22q11.2 deletions. The mechanism responsible for this rare type of translocation is discussed herein. |
| Databáze: | OpenAIRE |
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