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Distal trisomy 3q as a risk factor for neural tube defects
Taiwanese Journal of Obstetrics & Gynecology 55 (2016) 769e770
Contents lists available at ScienceDirect
Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com
Correspondence
Distal trisomy 3q as a risk factor for neural tube defects
Dear Editor, The recent article by Preiksaitiene et al [1] gives an excellent ground to discuss a role of distal trisomy 3q in the formation of neural tube defects (NTD). An analysis of the literature shows 15 reported cases of cytogenetically confirmed trisomy 3q in patients with NTD (Table 1) [1e14]. Most affected patients had spina bifida (SB), although four patients had encephalocele or its equivalent. Observation of SB in one patient and encephalocele in her sibling with the same imbalance [6] and association of encephalocele and SB in the same person [1] suggests that both SB and encephalocele may be different manifestations of the same gene(s). However, not a single person in this group had anencephaly. The causative gene(s) should reside within the segment 3q26.2q27. A tiny duplication of 3q25.33 in the observation by Hightower et al [13] may be just a random finding not related to NTD. Table 1 Neural tube defects in patients with trisomy 3q. Study
Monosomic segment
Trisomic segment(s)
Type of neural tube defect
Pires et al [2]
d
3q12qter
Wattanasirichaigoon et al [3] de Azevedo Moreira et al [4] Fear & Briggs [5] Schinzel 2001 [6], Case 1 Schinzel 2001 [6], Case 2 Prabhakara et al [7] Gimelli et al [8]
6p?
3q2qter
Partial absence of an occipital bone (~OE) Encephalocele
d
3q21q27
Spina bifida
13q34qter 5p15.2pter
3q21qter 3q21qter
Spina bifida Spina bifida
5p15.2pter
3q21qter
OE
3p26pter d
Spina bifida Spina bifida
Winnicka et al [9] McCorquodale et al [10] King et al [11] Ounap et al [12]
d d
Hightower et al [13]
17p13.3
Preiksaitiene et al [1]
5p13.33pter
3q21qter Tetrasomy 3q22.3qter/nl 3q23qter 3q24qter (þ 13pter-q14) 3q25.2qter/nl Tetrasomy 3q25.3q29 3q25.33 (þ tetrasomy 20q13.2) 3q26.1qter
Cockwell et al [14]
d
Tetrasomy 3q26.2qter
22q13qter d
OE ¼ occipital encephalocele.
Spina bifida Spina bifida Spina bifida Spina bifida Spina bifida Encephalocele, spina bifida Spina bifida
In three cases, SB was found in patients with tetrasomy for the distal part of 3q. Distal tetrasomy 3q is a very rare form of cytogenetic defect. Because the ratio of SB in patients with distal tetrasomy 3q is much higher than in those with trisomy for the same segment it looks like four copies of the causative gene(s) have a greater chance to produce an NTD. In total, trisomy (or tetrasomy) 3q26.2q27 may be considered as another form of chromosomal imbalance responsible for SB and/or occipital encephalocele. Conflicts of interest The author has no conflicts of interest relevant to this letter.
References [1] Preiksaitiene E, Benusiene E, Ciuladaite Z, Sliu zas V, Mikstiene_ V, Ku cinskas V. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p15.33-pter deletion due to familial balanced rearrangement. Taiwan J Obstet Gynecol 2016;55:410e4. ^ncio M, Rei AI, Castedo S, Saraiva J. Prenatal foetal diag[2] Pires A, Ramos L, Vena nosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement. Prenat Diagn 2005;25:292e5. [3] Wattanasirichaigoon D, Prasad C, Schneider G, Evans JA, Kopf BR. Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet 2003;122A:63e9. [4] de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, et al. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with DandyeWalker malformation in a girl with partial trisomy 3q. Ophthalmic Genet 2005;26:37e43. [5] Fear C, Briggs A. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child 1979;54:135e8. [6] Schinzel A. Catalogue of unbalanced chromosome aberrations in man. 2nd ed. Berlin, New York: De Gruyter Verlag; 2001. p. 145. [7] Prabhakara K, Bruno DL, Padman P, Prasad S, Sudheer Kumar R, Slater HR, et al. Prenatal detection of deletioneduplication of chromosome 3 arising from meiotic recombination of a famalial pericentric inversion. Prenat Diagn 2008;28:466e8. [8] Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. Eur J Med Genet 2007;50:264e73. [9] Winnicka D, Babicz M, Poluha A, Lejman M, Styka B, Jaszczuk I, et al. Duplication 3q2 syndrome: a variant of the aberration in a newborn female patient. Chromosome Res 2011;19:S83 (Abstract 1.P84). [10] McCorquodale M, Erickson RP, Robinson M, Roszczipka K. Kleeblattsch€ adel anomaly and partial trisomy for chromosome 13 (47,XY,þder(13),t(3,13) (q24;q14). Clin Genet 1980;17:409e14. [11] King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, et al. Mosaic structural variation in children with developmental disorders. Hum Mol Genet 2015;24:2733e45.
http://dx.doi.org/10.1016/j.tjog.2016.07.002 1028-4559/Copyright © 2016, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
770
Correspondence / Taiwanese Journal of Obstetrics & Gynecology 55 (2016) 769e770
[12] Ounap K, Ilus T, Bartsch O. A girl with inverted triplication of chromosome 3q25.3/q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet 2005;134A:434e8. [13] Hightower HB, Robin NH, Mikhail FM, Ambalavanan N. Array comparative genomic hybridization testing in CHD. Cardiol Young 2015;25:1155e72. [14] Cockwell AE, Gibbons B, Moore IE, Crolla JA. An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet 2000;37:807e10.
Iosif Lurie* Chromosome Disorder Outreach, Boca Raton, FL, USA *
Corresponding author. 913 Rachel Jordan Court, Owings Mills, MD 21117, USA. E-mail address: [email protected].
Contents lists available at ScienceDirect
Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com
Correspondence
Distal trisomy 3q as a risk factor for neural tube defects
Dear Editor, The recent article by Preiksaitiene et al [1] gives an excellent ground to discuss a role of distal trisomy 3q in the formation of neural tube defects (NTD). An analysis of the literature shows 15 reported cases of cytogenetically confirmed trisomy 3q in patients with NTD (Table 1) [1e14]. Most affected patients had spina bifida (SB), although four patients had encephalocele or its equivalent. Observation of SB in one patient and encephalocele in her sibling with the same imbalance [6] and association of encephalocele and SB in the same person [1] suggests that both SB and encephalocele may be different manifestations of the same gene(s). However, not a single person in this group had anencephaly. The causative gene(s) should reside within the segment 3q26.2q27. A tiny duplication of 3q25.33 in the observation by Hightower et al [13] may be just a random finding not related to NTD. Table 1 Neural tube defects in patients with trisomy 3q. Study
Monosomic segment
Trisomic segment(s)
Type of neural tube defect
Pires et al [2]
d
3q12qter
Wattanasirichaigoon et al [3] de Azevedo Moreira et al [4] Fear & Briggs [5] Schinzel 2001 [6], Case 1 Schinzel 2001 [6], Case 2 Prabhakara et al [7] Gimelli et al [8]
6p?
3q2qter
Partial absence of an occipital bone (~OE) Encephalocele
d
3q21q27
Spina bifida
13q34qter 5p15.2pter
3q21qter 3q21qter
Spina bifida Spina bifida
5p15.2pter
3q21qter
OE
3p26pter d
Spina bifida Spina bifida
Winnicka et al [9] McCorquodale et al [10] King et al [11] Ounap et al [12]
d d
Hightower et al [13]
17p13.3
Preiksaitiene et al [1]
5p13.33pter
3q21qter Tetrasomy 3q22.3qter/nl 3q23qter 3q24qter (þ 13pter-q14) 3q25.2qter/nl Tetrasomy 3q25.3q29 3q25.33 (þ tetrasomy 20q13.2) 3q26.1qter
Cockwell et al [14]
d
Tetrasomy 3q26.2qter
22q13qter d
OE ¼ occipital encephalocele.
Spina bifida Spina bifida Spina bifida Spina bifida Spina bifida Encephalocele, spina bifida Spina bifida
In three cases, SB was found in patients with tetrasomy for the distal part of 3q. Distal tetrasomy 3q is a very rare form of cytogenetic defect. Because the ratio of SB in patients with distal tetrasomy 3q is much higher than in those with trisomy for the same segment it looks like four copies of the causative gene(s) have a greater chance to produce an NTD. In total, trisomy (or tetrasomy) 3q26.2q27 may be considered as another form of chromosomal imbalance responsible for SB and/or occipital encephalocele. Conflicts of interest The author has no conflicts of interest relevant to this letter.
References [1] Preiksaitiene E, Benusiene E, Ciuladaite Z, Sliu zas V, Mikstiene_ V, Ku cinskas V. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p15.33-pter deletion due to familial balanced rearrangement. Taiwan J Obstet Gynecol 2016;55:410e4. ^ncio M, Rei AI, Castedo S, Saraiva J. Prenatal foetal diag[2] Pires A, Ramos L, Vena nosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement. Prenat Diagn 2005;25:292e5. [3] Wattanasirichaigoon D, Prasad C, Schneider G, Evans JA, Kopf BR. Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet 2003;122A:63e9. [4] de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, et al. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with DandyeWalker malformation in a girl with partial trisomy 3q. Ophthalmic Genet 2005;26:37e43. [5] Fear C, Briggs A. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child 1979;54:135e8. [6] Schinzel A. Catalogue of unbalanced chromosome aberrations in man. 2nd ed. Berlin, New York: De Gruyter Verlag; 2001. p. 145. [7] Prabhakara K, Bruno DL, Padman P, Prasad S, Sudheer Kumar R, Slater HR, et al. Prenatal detection of deletioneduplication of chromosome 3 arising from meiotic recombination of a famalial pericentric inversion. Prenat Diagn 2008;28:466e8. [8] Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. Eur J Med Genet 2007;50:264e73. [9] Winnicka D, Babicz M, Poluha A, Lejman M, Styka B, Jaszczuk I, et al. Duplication 3q2 syndrome: a variant of the aberration in a newborn female patient. Chromosome Res 2011;19:S83 (Abstract 1.P84). [10] McCorquodale M, Erickson RP, Robinson M, Roszczipka K. Kleeblattsch€ adel anomaly and partial trisomy for chromosome 13 (47,XY,þder(13),t(3,13) (q24;q14). Clin Genet 1980;17:409e14. [11] King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, et al. Mosaic structural variation in children with developmental disorders. Hum Mol Genet 2015;24:2733e45.
http://dx.doi.org/10.1016/j.tjog.2016.07.002 1028-4559/Copyright © 2016, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
770
Correspondence / Taiwanese Journal of Obstetrics & Gynecology 55 (2016) 769e770
[12] Ounap K, Ilus T, Bartsch O. A girl with inverted triplication of chromosome 3q25.3/q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet 2005;134A:434e8. [13] Hightower HB, Robin NH, Mikhail FM, Ambalavanan N. Array comparative genomic hybridization testing in CHD. Cardiol Young 2015;25:1155e72. [14] Cockwell AE, Gibbons B, Moore IE, Crolla JA. An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet 2000;37:807e10.
Iosif Lurie* Chromosome Disorder Outreach, Boca Raton, FL, USA *
Corresponding author. 913 Rachel Jordan Court, Owings Mills, MD 21117, USA. E-mail address: [email protected].