Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome
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...
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| Veröffentlicht in: | Turkish journal of pediatrics 2019, Vol.61 (5), p.780-785 |
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| creator | Nazmy, Nahla Elhady, Ghada Refaat, Esraa Kholeif, Soha |
| description | 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. |
| doi_str_mv | 10.24953/turkjped.2019.05.020 |
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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. 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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.</abstract><cop>Turkey</cop><pub>Hacettepe University Faculty of Medicine</pub><pmid>32105013</pmid><doi>10.24953/turkjped.2019.05.020</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Birth weight Chromosomes Congenital diseases Ear diseases Families & family life Genetic counseling Nose Parents & parenting Patients Vertebrae |
| title | Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome |
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