Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate |
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| Authors: | Senses D A Silan F Uzun H Alagöz D Zafer C Kocabay K Karaüzüm S B Cetin Z |
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| Institution: | Department of Pediatrics, Düzce University, School of Medicine, Düzce, Turkey. sensesdali@yahoo.com |
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| Abstract: | We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect. |
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