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

CASE REPORT

A 25-year-old gravida 2, para 0 (G2P0) was referred for ultrasonic evaluation of increased nuchal translucency (NT) thickness, detected during routine first-trimester ultrasound screening at another hospital. Her previous pregnancy ended in spontaneous abortion at 17 weeks’ gestation. The parents were non consanguineous Caucasians, while familial history revealed recurrent miscarriages in the husband’s family. Detailed sonographic examination showed a septated cystic hygroma measuring 6 mm, and chorionic villus sampling (CVS) was performed at 13 weeks’ gestation. Cytogenetic analysis of short- and long-term cultured villi showed a male fetal karyotype with derivative chromosome 3. Subsequent amniocentesis was performed at 17 weeks’ gestation. A second-trimester examination was unremarkable, except of discrete nuchal thickness. Parental cytogenetic evaluation using karyotyping and FISH analysis showed apparently balanced translocation and paracentric inversion in father t(2;3) (p25.1; p25.3)inv(3) (p13p25.3) [Figure 1(A)]. Dual-color FISH was performed on paternal peripheral blood lymphocytes [Figure 1(B)] and cultured amniotic fluid cells according to the manufacturer’s instructions, using whole-chromosome painting probes (wcp2, wcp3; Cytocell Ltd., Cambridge, Cambridgeshire, UK) probes specific for cen-tromeres of chromosome 2 and 3 (D2Z1, D3Z1 Kreatech probes; Leica Biosystems Inc., Buffalo Grove, IL, USA), locus specific 3p25 (PPARγ; Kreatech), and subtelomeric probes 2p and 3p (D2S52147, D3S4558 Kreatech probes; Leica Biosystems). Classical cytogenetic and FISH analysis of cultured amniotic fluid cells revealed an unbalanced karyotype 46,XY,der(3)t(2;3) (p25.1;p25.3)inv(3) (p13p25.3) pat in the fetus, resulting in partial trisomy 2p and partial monosomy 3p. Genomic DNA was isolated from cultured amniocytes using DNeasy® Blood & Tissue Kit (Qiagen Inc., Valencia, CA, USA) according to the manufacturer’s protocol. Array comprehensive genomic hybridization (aCGH) was carried out using SurePrint G3 CGH+SNP 180 K microarray from Agilent Technologies (Santa Clara, CA, USA). Microarray slide was scanned with G4900DA SureScan Microarray Scanner (Agilent Technologies), and data were analyzed by Cytogenomics 3.0.6.6 software (Agilent Technologies). Microarray analysis confirmed unbalanced structural rearrangement in the fetus, and delineated exact breakpoint sites showing a 11.6 Mb deletion at 3p26.3-p25.3 [arr(hg19)3p26.3p25.3 (100, 389-11,723, 086) × 1), and duplication in size of 10.5 Mb at 2p25.3-p25.1 [arr(hg19)2p25.3p25.1(39,193-10,595, 414) × 3] [Figure 1(C) and 1(D)]. After extensive genetic counseling, the parents decided to terminate the pregnancy at 21 weeks’ gestation. Autopsy and external measurements of the male fetus revealed a weight of 380.53 g, crown-heel length of 25 cm, crown-rump length of 17.5 cm and head circumference of 17.9 cm. All the measurements were consistent with 21/22 gestational weeks. The fetus had a normally formed head without overriding of the skull bones. Ears were low-set and posteriorly rotated. Hypertelorism and increased nuchal thickness were noted. Limbs were within normal limits and external genitalia were in accordance with male sex. Internal examination of thoracic cavity revealed normally formed heart, thymus and neck structures. The left lung contained two lobes, while the right lung had incomplete horizontal fissure giving the appearance of undeveloped middle lobe, the oblique fissure was present. Abdominal organs were of normal size and position giving the gestational age. The testicles were located in the abdomen, cut surface showed hemorrhage.

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