The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 2
A report of a patient with duplication of 7p13→pter and deletion of 2p23→pter due to a maternal 2p;7p translocation
1Department of Genetics, Zeynep Kamil Women’s and Children’s Hospital, İstanbul, Turkey
2Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey
Türköver BB, Sayar C, Toksoy G, Elçioğlu N. A report of a patient with duplication of 7p13→pter and deletion of 2p23→pter due to a maternal 2p;7p translocation. Turk J Pediatr 2009; 51: 174-179.

We report a patient with severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, ocular hypertelorism, broad nasal bridge, low-set ears, long philtrum, micrognathia, partial cleft palate, broad distal digits, abnormal palmar creases, joint contractures, and cardiovascular anomaly. Cytogenetic analysis with high resolution chromosome banding showed an unbalanced karyotype of 46,XX, der(2)t(2;7)(p23;p13) originating from a maternal balanced translocation. Our patient showed a duplication of 7p13→pter and a deletion of 2p23→pter. Our analysis suggests that duplication 7p is associated with a recognizable characteristic phenotype. Keywords : 7p duplication, 2 p deletion, multiple congenital anomaly syndrome

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