Our patient had a derivative chromosome 4, that arose from a paternal balanced reciprocal translocation, i.e., 46,XY,t(2;4)(p21;q33). As a consequence, the clinical features associated with the presence of an extra 2p21 to 2pter region are seen in the patient.

Carriers of balanced translocations do not generally reveal any abnormal phenotype. However, they are at risk of infertility/miscarriages. Furthermore, they may have child or children who inherit either one of the aberrant chromosomes with the partial monosomy or one of the abnormal chromosomes with partial trisomy as in our case. These chromosomal segments might contain or lack a variety of important genes that are able to cause multiple congenital malformations in the outgoing generations. A summary of all clinical findings in similar published reports is listed in Table 1.

Partial trisomy of different segments of 2p has with some uncommon features has been presented. For example, trisomy 2p21p25 is associated with broncho-pulmonary hypoplasia (17); trisomy 2p23 with flat, wide glabella and depressed nasal bridge (3); trisomy 2p24 with neural tube defects and hand and foot deformities (16); trisomy 2p232p25 with myopia (12); trisomy 2p25 with cryptorchidism and small penis in males (15), trisomy 2p23 p24 with abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) (17).

The human prolactin regulatory element binding (PREB) protein gene located on 2p23 may have a role in human development and abnormal dosage of this transcription factor. It may also be involved in developmental abnormalities of the face, skeletal defects, growth and mental retardation, congenital heart and neural tube defects, and abnormalities of the genitalia (18).