Balkan Journal of Medical Genetics

CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p
Demirhan O, Özgünen FT, Taştemir D
*Corresponding Author: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana/Turkey; Tel. +90-322-338-7140; Fax. +90-322-338-7140; E-mail. osdemir@cu.edu.tr
page: 61

INTRODUCTION

The imbalance of 4p is a rare chromosomal abnormality, and results in a variety of distinct clinical conditions. Forty cases with duplication of the distal half of 4p are published in the literature [1], and three of these were reviewed by Kleczkowska et al. [2]. Most of them were derived from familial chromosomal rearrangements. Partial 4p trisomy is associated with distinctive multiple congenital anomalies/mental retardation syndrome with clinical manifestations including a characteristic nose with a flat bridge and a bulbous tip, often referred to as boxer nose, abnormal ears, and flexion contractures [3,4]. Such phenotypic variability may depend on the length and location of the duplicated portion of 4p. The characteristic features of partial 4p trisomy are most likely due to duplication of bands 4p15.2 to 4p16.3 [5,6]. We report on a fetus ascertained prenatally because of intrauterine growth retardation, lung and kidney hypoplasia, and congenital heart defects associated with a distal de novo trisomy of the terminal short arm of chromosome 4.

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