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

DISCUSSION

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of these share a number of manifestations, such as mental retardation, microcephaly, pre- and post-natal growth retardation, anteverted and low-set ears, which can be considered as non specific signs, generally attributable to gene dosage impairment. On the other hand, more distinctive phenotypic traits correlate with the segmental aneuploidy. Although, duplication of the distal half of 4p leads to trisomy 4p syndrome, a distinct clinical entity with a characteristic facial appearance [8]. The fetus described in our study had a duplication of 4p16.1- pter, and the phenotype of the fetus we described, with an intrauterine growth retardation, lung and kidney hypoplasia and congenital heart defects. Duplications of the distal half of 4p characterized by a boxer nose configuration and deep-set eyes. These signs are usually observed even in cases of small terminal duplications [9]. The smallest duplicated segment leading to the dup(4p) phenotype was described by Wyandt et al. [6] in an 18-month-old infant. Despite the small size of the duplication, the region 4p16.1 to 4p16.3 appears to represent the region responsible for the typical phenotype. Recurrent infections of the respiratory tract seem to be a typical feature in partial trisomy 4 (4p21) [4,10]. Affected infants may have respiratory difficulties, potentially leading to lifethreatening complications. In some cases, additional abnormalities may include protrusion of portions of the intestine into muscles of the inguinal hernia, structural abnormalities of the congenital heart defects, kidney malformations, or absence of the band of nerve fibers that join the two hemispheres of the brain [8]. Congenital heart defects may be detected with specialized tests that enable physicians to evaluate the structure and function of the heart. Cardiac evaluation may include clinical examination with a stethoscope to evaluate heart and lung sounds, x-ray studies, tests that record the electrical activities of the heart muscle, a technique in which sound waves are directed toward the heart, enabling evaluation of cardiac motion and function, or other measures (e.g., cardiac catheterization). The large variability of the phenotype in trisomy 4p may be explained by the variation in length of the duplicated segments [11,12]. In summary, genetic counseling will be of benefit for individuals with partial duplication 4p and their families. The parents of a child with de novo duplication usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. Early intervention may be important in ensuring that children with partial duplication 4p reach their potential.

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