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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REFERENCES
1. Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone
R, Zuffardi O. A familial inverted duplication/
deletion of 2p25.1-25.3 provides new clues on the
genesis of inverted duplications. Eur J Hum Genet.
2009; 17(2): 179-186.
2. Aviram-Goldring A, Fritz B, Bartsch C, Steuber E,
Daniely M, Lev D, et al. Molecular cytogenetic studies
in three patients with partial trisomy 2p, including
CGH from paraffin-embedded tissue. Am J Med
Genet. 2000; 91(1): 74-82.
3. Lee C, Murray MF, Miron OM, Marsden D, Irons M,
Wilkins-Haug LE, et al. Clinical picture: Multicolour
karyotyping. Lancet. 2001; 357(9264): 1240.
4. Sperry ED, Schuette JL, van Ravenswaaij-Arts CMA,
Green GE, Martin DM. Duplication 2p25 in a child
with clinical features of CHARGE syndrome. Am J
Med Genet A. 2016; 170A(5): 1148-1154.
5. Malmgren H, Sahlén S, Wide K, Cundvall M, Blennow
E. Distal 3p Syndrome: Detailed molecular cytogenetic
and clinical characterization of three small
distal deletions and review. Am J Med Genet. 2007;
143(18): 2143-2149.
6. Moghadasi S, Haeringen A, Langerdonck L, Gijsbers
ACJ, Ruivenkamp CAL. A terminal 3p26.3 deletion
is not associated with dysmorphic features and intellectual
disability in a four-generation family. Am J
Med Genet A. 2014; 164A(11): 2863-2868. 7. Chen C-P, Liu F-F, Jan S-W, Lin S-P, Lan C-C. Prenatal
diagnosis of partial monosomy 3p and partial
trisomy 2p in fetus associated with shortening of the
long bones and a single umbilical artery. Prenat Diagn.
1996; 16(?): 270-275.
8. Wakita Y, Narahara K, Takahashi Y, Kikkawa K, Kimura
S, Oda M, et al. Duplication of 2p25: Confirmation
of the assignment of soluble acid phosphatise (ACP1)
locus to 2p25. Hum Genet. 1985; 71(3): 259-260.
9. Roggenbuck JA, Fink JM, Mendelsohn NJ. Unique
case of trisomy 2p24.3-pter with no associated monosomy.
Am J Med Genet. 2001; 101(1): 50-54.
10. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou
I, Shiina M, et al. De novo SOX11 mutations cause
Coffin-Siris syndrome. Nat Commun. 2014; 5: 4011.
11. De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen
A, Zeesman S, et al. Refinement of the critical 2p25.3
deletion region: The role of MYT1L in intellectual disability
and obesity. Genet Med. 2015; 17(6): 460-466.
12. Lund ICB, Christensen R, Petersen OB, Vogel I, Vestergaard
EM. Chromosomal microarray in foetuses
with increased nuchal translucency. Ultrasound Obstet
Gynecol. 2015; 45(1): 95-100.
13. Thangavelu M, Frolich G, Rogers D. Partial duplication
2p as the sole abnormality in two cases with anencephaly.
Am J Med Genet A. 2004; 124A(2): 170-172.
14. Marlet L, Alix E, Till M, Raskin-Champion F, Attia
J, Boggio D, et al. Prenatal diagnosis of trisomy 2p
due to terminal 2p duplication including interstitial
telomeric sequences. Cytogenet Genome Res. 2017;
153(3): 117-124.
15. Kuechler A, Zink AM, Wieland T, Lüdecke H-J, Cremer
K, Salviati L, et al. Loss-of-function variants
of SETD5 cause intellectual disability and the core
phenotype of microdeletion 3p25.3 syndrome. Eur J
Hum Genet. 2015; 23(6): 753-760.
16. Mattioli F, Schaefer E, Magee A, Mark P, Mancini
M, Dieterich K, et al. Mutations in histone acetylase
modifier BRPF1 cause an autosomal-dominant form
of intellectual disability with associated ptosis. Am J
Hum Genet 2017; 100(1): 105-116.
17. Fernandez T, Morgan T, Davis N, Klin A, Morris A,
Farhi A, et al. Disruption of contactin 4 (CNTN4)
results in developmental delay and other features of
3p deletion syndrome. Am J Hum Genet. 2004; 74(6):
1286-1293.
18. Suzuki-Muromoto S, Hino-Fukuyo N, Haginoya K,
Kikuchi A, Sato H, Sato Y, et al. A case of 3p deletion
syndrome associated with cerebellar hemangioblastoma.
Brain Dev. 2015; 2(2): 257-206.
19. Pohjola P, De Leeuw N, Penttinen M, Kääriäinen H.
Terminal 3p deletions in two families - Correlation
between molecular karyotype and phenotype. Am J
Med Genet A. 2010; 152A(2): 441–446.
20. Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia
MT, Lerone M, et al. Microarray based analysis of
an inherited terminal 3p26.3 deletion, containing only
the CHL1 gene, from a normal father to his two affected
children. Orphanet J Rare Dis. 2011; 6: 12.
21. Cargile CB, Goh DL-M, Goodman BK, Chen X-N,
Korenberg JR, Semenza GL, et al. Molecular cytogenetic
characterization of subtle interstitial del(3)
(p25.3-p26.2) in patient with 3p syndrome. Am J Med
Genet. 2002; 109(2): 133-138.
22. Carvill GL, Jacinta M, McMahon JM, Schneider A,
Zemel M, Myers CT, et al. Mutations in the GABA
transporter SLC6A1 cause epilepsy with myoclonicatonic
seizures. Am J Hum Genet. 2015; 96(5): 808-815.
23. Shuib S, McMullan D, Rattenberry E, Barber RM,
Rahman F, Zatyka M, et al. Microarray based analysis
of 3p25-p26 deletions (3p-syndrome). Am J Med
Genet A. 2009; 149A(10): 2099-2105.
24. Robinson SW, Morris CD, Goldmuntz E, Reller MD,
Jones MA, Steiner RD, et al. Missense mutations in
CRELD1 are associated with cardiac atrioventricular
septal defects. Am J Hum Genet. 2003; 72(4): 1047-
1052.
25. Sotgia F, Minetti C, Lisanti MP. Localization of the
human caveolin-3 gene to the D3S18/D3S4163/
D3S4539 locus (3p25), in close proximity to the
human oxytocin receptor gene. Identification of the
caveolin-3 gene as a candidate for deletion in 3psyndrome.
FEBS Lett. 1999; 452(3): 177-180.
26. Peltekova IT, Macdonald A, Armour C. Microdeletion
on 3p25 in a patient with features of 3p deletion
syndrome. Am J Med Genet A. 2012; 158A(10):
2583-2586.
27. Chen C-P, Su Y-N, Chen C-Y, Su J-W, Chern S-R,
Town D-D, et al. Pure partial monosomy 3p (3p25.3→
pter): Prenatal diagnosis and array comparative
genomic hybridization characterization. Taiwan J
Obstet Gynecol. 2012; 51(3): 435-439.
28. Chen C-P, Chen Y-Y, Chern S-R, Wu P-S, Su J-W,
Chen W-L, et al. Prenatal diagnosis of a distal 3p
deletion associated with fetoplacental chromosomal
discrepancy and confined placental mosaicism detected
by array comparative genomic hybridization.
Taiwan J Obstet Gynecol. 2013; 52(2): 278-284.
29. Mack LM, Lee W, Mastrobattista JM, Belfort MA,
Van den Veyver IB, Shamshirsaz AA, et al. Are first trimester nuchal septations independent risk factors
for chromosomal anomalies? J Ultrasound Med.
2017; 36(1): 155-161.
30. Khalil A, Mahmoodian N, Kulkarni A, Homfray T,
Papageorghiou A, Bhide A, et al. Estimation of detection
rates of aneuploidy in high-risk pregnancy
using an approach based on nuchal translucency and
non-invasive prenatal testing: A cohort study. Fetal
Diagn Ther. 2015; 38(4): 254-261.
31. Grande M, Jansen FA, Blumenfeld YJ, Fisher A,
Odibo AO, Haak MC, et al. Genomic microarray
in fetuses with increased nuchal translucency and
normal karyotype: A systematic review and metaanalysis.
Ultrasound Obstet Gynecol. 2015; 46(6):
650-658.
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