Balkan Journal of Medical Genetics

FETAL CYSTIC HYGROMA ASSOCIATED WITH TERMINAL 2p25.1 DUPLICATION AND TERMINAL 3p25.3 DELETION: CYTOGENETIC, FLUORESCENT IN SITU HYBRIDIZATION AND MICROARRAY FAMILIAL CHARACTERIZATION OF TWO DIFFERENT CHROMOSOMAL STRUCTURAL REARRANGEMENTS
Stipoljev F, Barbalic M, Logara M, Vicic A, Vulic M, Zekic Tomas S, Gjergja Juraski R
*Corresponding Author: Feodora Stipoljev, Ph.D., Associate Professor, Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh,” Sveti Duh 64, 10000 Zagreb, Croatia. Tel.: +385-1371-2273. Fax: +385-1374-5534. E-mail: stipoljev@yahoo.com
page: 79

INTRODUCTION

Pure partial trisomy for the terminal short arm of chromosome 2 is an extremely rare chromosomal aberration, described in only a few reports. Observed phenotypical features included prenatal and postnatal growth retardation, facial dysmorphia, congenital heart disease, genital hypoplasia, long widely spaced fingers/toes, and hypotonia [1-4]. Contrarily, terminal deletion of chromosome 3p is classified as a 3p25-pter deletion syndrome (MIM 613792), while the associated phenotype depends on exact size and location of the deletion. Characteristic features include low birth weight, trigonocephaly, microcephaly, hypertelorism, micrognathia, ptosis, ear anomalies, hypotonia, mental and growth retardation, whereas polydactyly, congenital heart defects, gastrointestinal and renal anomalies are considered as variable features [5,6]. To date, only one case of unbalanced translocation resulting in partial trisomy 2p and partial monosomy 3p has been reported [7]. Herein, we present a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. As father is the carrier of the reciprocal translocation 2p;3p and paracentric inversion of short arm of chromosome 3, this case emphasizes the importance of using different cytogenetic methods for the purposes of final diagnosis settlement.

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