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
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Abstract
We report 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.
Parents were non consanguineous Caucasians, with familial
history of recurrent miscarriages on the father’s side.
Detailed sonographic examination of the fetus showed a
septated cystic hygroma measuring 6 mm at 13 weeks’
gestation. Karyotyping and fluorescent in situ hybridization
(FISH) analysis of cultured amniotic fluid cells
revealed an unbalanced translocation der(3)t(2;3)(p25.1;
p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus.
Parental cytogenetic evaluation using karyotyping
and FISH analysis showed the presence of both a balanced
translocation and a paracentric inversion in father
t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis
showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication
of 10.5 Mb at the 2p25.3-p25 region. The duplicated
region at 2p25.1p25.3 contains 45 different genes, where
12 are reported as OMIM morbid genes with different
phenotypical implications. The deleted region at 3p26.3-
p25.3 contains 65 genes, out of which 27 are OMIM genes.
Three of these (CNTN4, SETD5 and VHL) were curated
by Clingene Dosage Gene Map and were given a high
haplo-insufficiency score. Genes affected by the unbalanced
translocation could have contributed to some specific
phenotypic changes of the fetus in late pregnancy. The
application of different cytogenetic methods was essential
in our case, allowing the detection of different types of
structural chromosomal aberrations and more thorough
genetic counseling for future pregnancies.
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