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Accessible Unlicensed Requires Authentication Published by De Gruyter October 7, 2015

Prenatal diagnosis of holoprosencephaly with proboscis and cyclopia caused by monosomy 18p resulting from unbalanced whole-arm translocation of 18;21

Yui Yamasaki, Yoshiya Miyahara, Kenji Tanimura, Yasuhiko Ebina, Hiroki Morita and Hideto Yamada

Abstract

A case of holoprosencephaly (HPE) with proboscis, fused eyes in one orbit, and cyclopia was diagnosed by fetal ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI). Ultrasonographic examination at 28 weeks of gestation showed fusion of the frontal part of the brain and ventricular dilation. Subsequent CT and MRI examinations confirmed this anomaly as alobar HPE. Amniocentesis followed by chromosome analysis demonstrated karyotype as de novo 45,XY, der (18;21)(q10;q10), with deletion of a short arm of chromosome 18. The pregnancy ended in a premature delivery of a male neonate weighing 1716 g at 34 weeks. Macroscopically, there were mid-frontal proboscis and single orbit with two eyes without normal nasal structures. He died 1 h after birth.


Corresponding author: Hideto Yamada, MD, PhD, Professor and Chairman, Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan, Phone: +81-78-382-6005, Fax: +81-78-382-6019, E-mail:

References

[1] Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1997;16: 261–72.Search in Google Scholar

[2] Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11:294–313.Search in Google Scholar

[3] Orioli IM, Amar E, Bakker MK, Bermejo-Sánchez E, Bianchi F, Canfield MA, et al. Cyclopia: an epidemiologic study in a large dataset from the international clearinghouse of birth defects surveillance and research. Am J Med Genet C Semin Med Genet. 2011;157C:344–57.Search in Google Scholar

[4] Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007;2:8.Search in Google Scholar

[5] Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M. Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet. 1995;57:1080–5.Search in Google Scholar

[6] Wang JC, Nemana L, Kou SY, Habibian R, Hajianpour MJ. Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p. Am J Med Genet. 1997;71:463–6.Search in Google Scholar

[7] Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, et al. Holoprosencephaly: an antenatally-diagnosed case series and subject review. Ann Acad Med Singapore. 2008;37:594–7.Search in Google Scholar

[8] Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, et al. Prenatal diagnosis of partial monosomy 18p(18p11.2–>pter) and trisomy 21q(21q22.3–>qter) with alobar holoprosencephaly and premaxillary agenesis. Prenat Diagn. 2001;21:346–50.Search in Google Scholar

[9] Goldstein I, Weissman A, Brill-Zamir R, Laevsky I, Drugan A. Ethmocephaly caused by de novo translocation 18;21 – prenatal diagnosis. Prenat Diagn. 2003;23:788–90.Search in Google Scholar

[10] Sepulveda W. Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. J Ultrasound Med. 2009;28:1077–80.Search in Google Scholar

[11] Bangma M, Lunshof S, Opstal DV, Galjaard RJ, Papatsonis DN. Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. AJP Rep. 2011;1:73–6.Search in Google Scholar

[12] Chen CP, Kuo YK, Su YN, Chern SR, Tsai FJ, Wu PC, et al. Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly. Taiwan J Obstet Gynecol. 2011;50:182–7.Search in Google Scholar

[13] McGhee EM, Qu Y, Wohlferd MM, Goldberg JD, Norton ME, Cotter PD. Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. Clin Genet. 2001;59:274–8.Search in Google Scholar

[14] Bartholin L, Powers SE, Melhuish TA, Lasse S, Weinstein M, Wotton D. TGIF inhibits retinoid signaling. Mol Cell Biol. 2006;26:990–1001.Search in Google Scholar

[15] Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3:4.Search in Google Scholar

  1. The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2015-7-2
Accepted: 2015-9-6
Published Online: 2015-10-7
Published in Print: 2016-3-1

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