A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

References

• Balikova I, de Ravel T, Ayuso C, Thienpont B, Casteels I, Villaverde C, Devriendt K, Fryns JP, Vermeesch JR. High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol. 2011;151:1087–94.e45. doi:10.1016/j.ajo.2010.11.025.
   PubMed Web of Science ®Google Scholar
• Davies AF, Mirza G, Flinter F, Ragoussis J.An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. J Med Genet. 1999;36(9):708–10.
   PubMed Web of Science ®Google Scholar
• Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L. Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet A. 2005;136:162–68. doi:10.1002/ajmg.a.30784.
   PubMed Web of Science ®Google Scholar
• Beby F, Des Portes V, Till M, Mottolese C, Denis P. 2012. Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. Ophthalmic Genet. 33(4):240–48. doi:10.3109/13816810.2012.675396
   PubMed Web of Science ®Google Scholar
• Marical H, Le Bris MJ, Douet-Guilbert N, Parent P, Descourt JP, Morel F, De Braekeleer M. 18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis. Am J Med Genet A. 2007;143a:2192–95. doi:10.1002/ajmg.a.31881.
   PubMed Web of Science ®Google Scholar
• Rodriguez L, Liehr T, Mrasek K, Mansilla E, Martinez-Fernandez ML, Garcia A, Martinez-Frias ML. Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. Am J Med Genet A. 2007;143a:2727–32. doi:10.1002/ajmg.a.32003.
   PubMed Web of Science ®Google Scholar
• Wilson GN, Heller KB, Elterman RD, Schneider NR. 1990. Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18. Am J Med Genet. 36(4):506–10. doi:10.1002/ajmg.1320360427
   PubMed Web of Science ®Google Scholar
• Li S, Tuck-Muller CM, Martinez JE, Rowley ER, Chen H, Wertelecki W.Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH). Am J Med Genet. 1998;80(5):487–90.doi:10.1002/()1096-8628.
   PubMed Web of Science ®Google Scholar
• Moog U, Engelen JJ, de Die-smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet. 1994;46:423–29.doi:10.1111/j.1399-0004.1994.tb04410.x.
   PubMed Web of Science ®Google Scholar
• Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Ades LC. 2005. Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet A. 132a(4):381–85. doi:10.1002/ajmg.a.30274
   PubMed Web of Science ®Google Scholar
• Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gerard M, Bitoun P, Boumendil J, Robin S, et al. Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Am J Med Genet A. 2012;158a:2430–38.
   PubMed Web of Science ®Google Scholar
• Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971;2:971–72.
   PubMed Web of Science ®Google Scholar
• Veldman T, Vignon C, Schrock E, Rowley JD, Ried T. 1997. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet. 15(4):406–10. doi:10.1038/ng0497-406
   PubMed Web of Science ®Google Scholar
• Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta Y, Minoshima S. 2016. Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Hum Genome Var. 3(1):16011. doi:10.1038/hgv.2016.11
   PubMedGoogle Scholar
• Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, et al. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One. 2012;7(2):e31036. doi:10.1371/journal.pone.0031036.
   PubMed Web of Science ®Google Scholar
• Sawada M, Sato M, Hikoya A, Wang C, Minoshima S, Azuma N, Hotta Y. 2011. A case of aniridia with unilateral Peters anomaly. J Aapos. 15(1):104–06. doi:10.1016/j.jaapos.2010.11.006
   PubMed Web of Science ®Google Scholar
• Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. 2015. Subtelomeric 6p25 deletion/duplication: report of a patient with new clinical findings and genotype-phenotype correlations. Eur J Med Genet. 58(5):310–18. doi:10.1016/j.ejmg.2015.02.011
   PubMed Web of Science ®Google Scholar
• Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, et al. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 2002;43:1843–49.
   PubMed Web of Science ®Google Scholar
• Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet. 2012;8(8):e1002843. doi:10.1371/journal.pgen.1002843.
   PubMed Web of Science ®Google Scholar
• Cereda A, Carey JC. 2012. The trisomy 18 syndrome. Orphanet J Rare Dis. 7(1):81. doi:10.1186/1750-1172-7-81
   PubMedGoogle Scholar
• Occella C, Bleidl D, Nozza P, Mascelli S, Raso A, Gimelli G, Gimelli S, Tassano E. 2013. Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. PLoS One. 8(4):e61311. doi:10.1371/journal.pone.0061311
   PubMed Web of Science ®Google Scholar
• Gazzellone MJ, Zarrei M, Burton CL, Walker S, Uddin M, Shaheen SM, Coste J, Rajendram R, Schachter RJ, Colasanto M, et al. Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. J Neurodev Disord. 2016;8(1):36. doi:10.1186/s11689-016-9170-9.
   PubMedGoogle Scholar
• Giordano M, Muratore V, Babu D, Meazza C, Bozzola M. 2016. A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. Mol Cytogenet. 9(1):89. doi:10.1186/s13039-016-0298-9
   PubMedGoogle Scholar
• Chen KM, Cherry AM, Hahn JS, Enns GM. 2004. Mild developmental delay in terminal chromosome 6p deletion. Am J Med Genet A. 129a(2):201–05. doi:10.1002/ajmg.a.30127
   PubMed Web of Science ®Google Scholar
• Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S. 2011. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. Am J Med Genet A. 155a(12):2925–32. doi:10.1002/ajmg.a.33858
   PubMed Web of Science ®Google Scholar
• Qi Z, Jeng LJ, Slavotinek A, Yu J. 2015. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Med Genomics. 8(1):38. doi:10.1186/s12920-015-0113-1
   PubMedGoogle Scholar
• Plaja A, Vidal R, Soriano D, Bou X, Vendrell T, Mediano C, Pueyo JM, Labrana X, Sarret E.Terminal deletion of 6p: report of a new case. Ann Genet. 1994;37(4):196–99.
   PubMedGoogle Scholar
• Kuipers BC, Vulto-van Silfhout AT, Marcelis C, Pfundt R, de Leeuw N, de Vries BB. 2013. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3. Clin Dysmorphol. 22(1):18–21. doi:10.1097/MCD.0b013e32835b6e39
   PubMed Web of Science ®Google Scholar
• Stohler R, Kucharski E, Farrow E, Torres-Martinez W, Delk P, Thurston VC, Vance GH. 2007. A case of de novo partial tetrasomy of distal 6p and review of the literature. Am J Med Genet A. 143a(17):1978–83. doi:10.1002/ajmg.a.31678
   PubMed Web of Science ®Google Scholar
• Vermeesch JR, Thoelen R, Fryns JP. 2004. A familial complex chromosome translocation resulting in duplication of 6p25. Ann Genet. 47(3):275–80. doi:10.1016/j.anngen.2004.03.002
   PubMedGoogle Scholar
• Ovaert C, Busa T, Faure E, Missirian C, Philip N, Paoli F, Milh M, Mace L, Zaffran S. 2017. FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease. Am J Med Genet A. 173(9):2489–93. doi:10.1002/ajmg.a.38331
   PubMed Web of Science ®Google Scholar
• Bozza M, Bernardini L, Novelli A, Brovedani P, Moretti E, Canapicchi R, Doccini V, Filippi T, Battaglia A. 2013. 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder. Eur J Paediatr Neurol. 17(3):225–31. doi:10.1016/j.ejpn.2012.09.008
   PubMed Web of Science ®Google Scholar
• Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R. 2012. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. Am J Med Genet A. 158a(7):1793–97. doi:10.1002/ajmg.a.35416
   PubMed Web of Science ®Google Scholar
• Nakane T, Kousuke N, Sonoko H, Yuko K, Sato H, Kubota T, Sugita K. 2013. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment. Pediatr Int. 55(3):376–81. doi:10.1111/j.1442-200X.2012.03729.x
   PubMed Web of Science ®Google Scholar
• Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R. 6p25 microdeletion: white matter abnormalities in an adult patient. Am J Med Genet A. 2013;161a:1686–89. doi:10.1002/ajmg.a.35937.
   PubMed Web of Science ®Google Scholar
• Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. Am J Med Genet A. 2011;155a:154–63. doi:10.1002/ajmg.a.33751.
   PubMed Web of Science ®Google Scholar
• Kannu P, Oei P, Slater HR, Khammy O, Aftimos S. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. Am J Med Genet A. 2006;140:1955–59. doi:10.1002/ajmg.a.31411.
   PubMedGoogle Scholar
• Breningstall GN, Patterson R, Hirsch B, Doyle B. Leukoencephalopathy with 6p25 deletion. Pediatr Neurol. 2017;67:e1–e2. doi:10.1016/j.pediatrneurol.2016.11.002.
   PubMedGoogle Scholar
• Caluseriu O, Mirza G, Ragoussis J, Chow EW, MacCrimmon D, Bassett AS. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006;140:1208–13. doi:10.1002/ajmg.a.31222.
   PubMedGoogle Scholar
• D’Haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, et al. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011;52(1):324–33. doi:10.1167/iovs.10-5309.
   PubMed Web of Science ®Google Scholar
• Chen CP, Tzen CY, Chern SR, Tsai FJ, Hsu CY, Lee CC, Lee MS, Pan CW, Wang W. A 12 Mb deletion of 6p24.1–>pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys. Eur J Med Genet. 2009;52:59–61. doi:10.1016/j.ejmg.2008.11.003.
   PubMed Web of Science ®Google Scholar
• Balasubramanian M, Smith K, Williams S, Griffiths PD, Parker MJ, Mordekar SR. 2012. Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication. J Pediatr Genet. 1(4):247–52. doi:10.3233/pge-12040
   PubMedGoogle Scholar
• Semerci CN, Cinbis MU, llmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, et al. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: phenotypic overlap with Mutchinick syndrome. Am J Med Genet A. 2010;152a(7):1724–29. doi:10.1002/ajmg.a.33383.
   PubMed Web of Science ®Google Scholar
• James PA, Aftimos S, Oei P. 2003. Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. Am J Med Genet A. 119a(3):288–92. doi:10.1002/ajmg.a.20079
   PubMed Web of Science ®Google Scholar
• Li F, Batista DA, Maumenee I, Wang T. An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism. Am J Med Genet A. 2010;152a:1318–21. doi:10.1002/ajmg.a.33355.
   PubMed Web of Science ®Google Scholar
• Delahaye A, Bitoun P, Drunat S, Gerard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, et al. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet. 2012;20(5):527–33. doi:10.1038/ejhg.2011.233.
   PubMed Web of Science ®Google Scholar
• Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, et al. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012;20:1224–33.
   PubMed Web of Science ®Google Scholar
• Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140–47. doi:10.1038/493.
   PubMed Web of Science ®Google Scholar
• Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68:364–72.
   PubMed Web of Science ®Google Scholar
• Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol. 2003;135:368–75. doi:10.1016/s0002-9394(02)02061-5.
   PubMed Web of Science ®Google Scholar
• Piccione M, Antona R, Salzano E, Cavani S, Malacarne M, Morreale Bubella R, Pierluigi M, Viaggi CD, Corsello G. 2012. Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis. Am J Med Genet A. 158a(1):150–54. doi:10.1002/ajmg.a.34308
   PubMed Web of Science ®Google Scholar
• Koolen DA, Knoers NV, Nillesen WM, Slabbers GH, Smeets D, de Leeuw N, Sistermans EA, de Vries BB. Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. Eur J Hum Genet. 2005;13:1169–71. doi:10.1038/sj.ejhg.5201487.
   PubMed Web of Science ®Google Scholar
• Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, et al. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A. 2005;134a(1):3–11. doi:10.1002/ajmg.a.30573.
   PubMed Web of Science ®Google Scholar
• Lee JH, Cho HS, Lee ES, Jung BC. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome. Korean J Lab Med. 2010;30:312–17. doi:10.3343/kjlm.2010.30.3.312.
   PubMedGoogle Scholar
• Adachi T, Kawamura K, Furusawa Y, Nishizaki Y, Imanishi N, Umehara S, Izumi K, Suematsu M. 2017. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey. Eur J Hum Genet. 25(9):1025–28. doi:10.1038/ejhg.2017.106
   PubMed Web of Science ®Google Scholar