2007•PubMedOpen access

Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.

Dursun Ali Şenses, Fatma Sılan, Hakan Uzun, Demet Alagöz, C Zafer, Kenan Kocabay, S B Karaüzüm, Zafer Çetin

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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Available abstract

Key concepts: Chromosomal translocation, Clinodactyly, Trisomy, Septum secundum, Derivative chromosome, Medicine, Gene duplication, Anatomy