Craniosynostosis and chromosomal alterations

Monographs in Human Genetics

Volumn 19, Issue , 2011, Pages 152-164

  Passos Bueno, M R ^a   Fanganiello, R D ^a   Jehee, F S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84870045011     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000319987     Document Type: Article

References (136)

1. Cohen MM, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, 2nd ed. Oxford, Oxford University Press, 2000.
2. Rice DP (ed): Craniofacial Sutures: Development, Disease and Treatment. Front Oral Biol. Basel, Karger, 2008.
3. Gorlin RJ, Cohen MM Jr, Hennekam R C M: Syndromes of the Head and Neck, 4th ed. (Oxford Monographs on Medical Genetics. Vol. 42). Oxford, Oxford University Press, 2001.
4. Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, et al: Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet 2006;15:1319-1328.
5. Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, et al: Mutations of ephrin-B1(EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 2004;101:8652-8657. (Pubitemid 38745826)
6. Graham JM Jr, Badura RJ, Smith DW: Coronal craniostenosis: fetal head constraint as one possible cause. Pediatrics 1980;65:995-999. (Pubitemid 10068356)
7. Graham JM Jr, De Saxe M, Smith DW: Sagittal craniostenosis: fetal head constraint as one possible cause. J Pediatr 1979;95:747-750. (Pubitemid 10228537)
8. Graham JM Jr, Smith DW: Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature. Pediatrics 1980;65:1000-1002. (Pubitemid 10068357)
9. Higginbottom MC, Jones KL, James HE: Intrauterine constraint and craniosynostosis. Neurosurgery 1980;6:39-44. (Pubitemid 10159927)
10. Hunenko O, Karmacharya J, Ong G, Kirschner RE: Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-beta receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg 2001;46:546-553, discussion 553-554.
11. Leonard CO, Ralston C, Carey JC, Morales L: Craniosynostosis and facial dysmorphism due to maternal Graves disease. Clin Res 1987;35:225A.
12. Johnsonbaugh RE, Bryan RN, Hierlwimmer R, Georges LP: Premature craniosynostosis: a common complication of juvenile thyrotoxicosis. J Pediatr 1978;93:188-191. (Pubitemid 8380025)
13. Menking FW, Schmid WU, Ebel KD, Holthusen WH, Schmidt WW: Premature craniosynostosis associated with hyperthyroidism. Ann Radiol (Paris) 1972;15:279-284.
14. Menking M, Wiebel J, Schmid WU, Schmidt WT, Ebel KD, Ritter R: Premature craniosynostosis associated with hyperthyroidism in 4 children with reference to 5 further cases in the literature. Monatsschr Kinderheilkd 1972;120:106-110.
15. Char F, Herty JB, Wilson RS, Dungen WT: Patterns of malformations in infants exposed to gestational anticonvulsants. Presentation at the Birth Defects Meeting, San Francisco, June 1978.
16. Happle R, Traupe H, Bounameaux Y, Fisch T: Teratogene Wirkung von Etretinat beim Menschen. Dtsch Med Wochenschr 1984;109:1476-1480. (Pubitemid 14035391)
17. Ardinger HH, Atkin JF, Blackston RD, Elsas LJ, Clarren SK, et al: Verification of the fetal valproate syndrome phenotype. Am J Med Genet 1988;29:171-185. (Pubitemid 18036040)
18. Assencio-Ferreira VJ, Abraham R, Veiga JC, Santos KC: [Metopic suture craniosynostosis: sodium valproate teratogenic effect. Case report]. Arq Neuropsiquiatr 2001;59:417-420. (Pubitemid 32666303)
19. Lajeunie E, Barcik U, Thorne JA, El Ghouzzi V, Bourgeois M, Renier D: Craniosynostosis and fetal exposure to sodium valproate. J Neurosurg 2001;95:778-782. (Pubitemid 33043350)
20. Cohen MM Jr: Etiopathogenesis of craniosynostosis. Neurosurg Clin N Am 1991;2:507-513.
21. Aleck KA, Bartley DL: Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. Am J Med Genet 1997;72:253-256. (Pubitemid 27424225)
22. Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M: Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? Am J Med Genet 1999;86:237-241. (Pubitemid 29465869)
23. Scott RR, Miller WL: Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res 2008;69:266-275. (Pubitemid 351693906)
24. Passos-Bueno MR, Sertié AL, Jehee FS, Fanganiello R, Yeh E: Genetics of craniosynostosis: genes, mutations and genotype-phenotype correlations; in Rice DP (ed): Craniofacial Sutures: Development, Disease and Treatment. Basel, Karger, 2008, pp 107-143.
25. Nagai T, Shimokawa O, Harada N, Sakazume S, Ohashi H, et al: Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t (13;15): dosage effect of IGF1R? Am J Med Genet 2002;113:173-177. (Pubitemid 35231549)
26. Schwyzer U, Binkert F, Caflisch U, Baumgartner B, Schinzel A: Terminal deletion of the short arm of chromosome 3, del (3pter-p25): a recognizable syndrome. Helv Paediatr Acta 1987;42:309-315. (Pubitemid 18058778)
27. Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J: Eleven new cases of del (9p) and features from 80 cases. J Med Genet 1988;25:741-749.
28. Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL: Five children with del (2) (q31q33) and one individual with dup (2) (q31q33) from a single family: review of brain, cardiac, and limb malformations. Am J Med Genet 1990;37:392-400. (Pubitemid 20367552)
29. Breslau-Siderius EJ, Wijnen JT, Dauwerse JG, De Pater JM, Beemer FA, Khan PM: Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. Hum Genet 1993;92:481-485. (Pubitemid 23348461)
30. Chu TW, Teebi AS, Gibson L, Breg WR, Yang-Feng TL: FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am J Med Genet 1994;52:92-96. (Pubitemid 24237338)
31. Lewanda AF, Morsey S, Reid CS, Jabs EW: Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 1995;59:193-198.
32. Brewer C, Holloway S, Zawalnyski P, Schinzel A, Fitz Patrick D: A chromosomal deletion map of human malformations. Am J Hum Genet 1998;63:1153-1159. (Pubitemid 30418586)
33. Garcia-Heras J, Corley N, Garcia MF, Kukolich MK, Smith KG, Day DW: De novo partial duplications 1p: report of two new cases and review. Am J Med Genet 1999;82:261-264. (Pubitemid 29078816)
34. Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, et al: Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 2005;13:139-149. (Pubitemid 40220556)
35. Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, et al: Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A 2009;149 A: 1544-1549.
36. Ben-Shachar S, Bidwa BM, Potocki L, Lalani SR: Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A 2009;149 A: 515-518.
37. Kaminker CP, Dain L, Lamas MA, Sanchez JM: Mosaic trisomy 9 syndrome with unusual phenotype. Am J Med Genet 1985;22:237-241. (Pubitemid 16255848)
38. Mattina T, Perrotta CS, Grossfeld P: Jacobsen syndrome. Orphanet J Rare Dis 2009;4:9.
39. Veitia RA, Nunes M, Quintana-Murci L, Rappaport R, Thibaud E, et al: Swyer syndrome and 46, XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. Am J Hum Genet 1998;63:901-905. (Pubitemid 30422693)
40. De Pater JM, Ippel PF, Bijlsma JB, Van Nieuwenhuizen O: Interstitial deletion 11q: case report and review of the literature. Genet Couns 1997;8:335-339. (Pubitemid 28014817)
41. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, Van Essen AJ: 11q-syndrome: three cases and a review of the literature. Genet Couns 1999;10:305-313. (Pubitemid 29473773)
42. Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S: Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 1999;65:1387-1395. (Pubitemid 30460389)
43. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, De Sa Moreira E, et al: Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 2005;67:503-510. (Pubitemid 40637448)
44. Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, et al: Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype. Am J Med Genet A 2008;146 A: 1430-1438. (Pubitemid 351770207)
45. Shimojima K, Yamamoto T: Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. Am J Med Genet A 2009;149 A: 1076-1080.
46. Su PH, Kuo PL, Chen SJ, Huang SC, Chen JY, Hung HM: Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. J Formos Med Assoc 2005;104:525-530.
47. Brueton LA, Van Herwerden L, Chotai KA, Winter RM: The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 1992;29:681-685.
48. Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, et al: Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 1994;19:115-119. (Pubitemid 24034374)
49. Van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, et al: Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p -and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet 1994;54:669-674.
50. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, et al: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997;15:36-41. (Pubitemid 27014947)
51. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, et al: Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997;15:42-46. (Pubitemid 27014948)
52. Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, et al: High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligationdependent probe amplification and array-based comparative genome hybridisation. J Med Genet 2008;45:447-450. (Pubitemid 351977135)
53. Zneimer SM, Cotter PD, Stewart SD: Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2.p15.1: phenotypic consequences and possible mechanisms. Clin Genet 2000;58:129-133.
54. Clancy BM, Johnson JD, Lambert AJ, Rezvankhah S, Wong A, et al: A gene expression profile for endochondral bone formation: oligonucleotide microarrays establish novel connections between known genes and BMP-2-induced bone formation in mouse quadriceps. Bone 2003;33:46-63. (Pubitemid 36952687)
55. D'Angelo CS, Kohl I, Varela MC, De Castro CI, Kim CA, et al: Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. Am J Med Genet A 2010;152 A: 102-110.
56. Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, et al: Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolution arily conserved non-transcribed region. J Med Genet 2006;43:534-540. (Pubitemid 43927331)
57. Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, et al: An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet A 2007;143 A: 1912-1918. (Pubitemid 47206069)
58. Carlton MB, Colledge WH, Evans MJ: Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus. Dev Dyn 1998;212:242-249. (Pubitemid 28265143)
59. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, et al: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 2007;81:835-841. (Pubitemid 47596551)
60. Jabs EW, Muller U, Li X, Ma L, Luo W, et al: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993;75:443-450. (Pubitemid 23335070)
61. Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T: Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet A 2004;128 A: 214-216. (Pubitemid 39162951)
62. Stankiewicz P, Thiele H, Baldermann C, Kruger A, Giannakudis I, et al: Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. Am J Med Genet 2001;103:56-62.
63. Zou YS, Huang XL, Ito M, Newton S, Milunsky JM: Further delineation of the critical region for the 9p-duplication syndrome. Am J Med Genet A 2009;149 A: 272-276.
64. Falk RE, Crandall BF, Sparkes RS, et al: Profound growth failure and minor congenital anomalies in a child with a small chromosome deletion:46, XX, del (1) (pter.q24::q31.qter). Clin Res 1977;25:176A.
65. De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM: Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet 2001;38:175-178. (Pubitemid 32250869)
66. Nixon J, Oldridge M, Wilkie AO, Smith K: Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. Am J Med Genet 1997;70:324-327. (Pubitemid 27250862)
67. Van Buggenhout G, Van Ravenswaaij-Arts C, McMaas N, Thoelen R, Vogels A, et al: The del (2) (q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet 2005;48:276-289. (Pubitemid 41354320)
68. Tipton RE, Berns JS, Johnson WE, Wilroy RS Jr, Summitt RL: Duplication 6q syndrome. Am J Med Genet 1979;3:325-330. (Pubitemid 10132308)
69. Sargent C, Burn J, Baraitser M, Pembrey ME: Trigonocephaly and the Opitz C syndrome. J Med Genet 1985;22:39-45. (Pubitemid 15165325)
70. Fagan K, Gill A: A new interstitial deletion of 4q (q21.1::q22.1). J Med Genet 1989;26:644-647. (Pubitemid 19239514)
71. Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR: A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings. Am J Med Genet A 2004;131:186-189. (Pubitemid 39578352)
72. Coco R, Penchaszadeh VB: Inherited parital duplication deficiency of chromosome 15 (p12;q22). J Genet Hum 1978;26:203-210. (Pubitemid 9042275)
73. Park P, Graham JM Jr, Berg SZ, Wurster-Hill DH: A de novo interstitial deletion of chromosome 6 (q22.2q23.1). Clin Genet 1988;33:65-68. (Pubitemid 18046712)
74. Chotai KA, Brueton LA, Van Herwerden L, Garrett C, Hinkel GK, et al: Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. Am J Med Genet 1994;51:270-276. (Pubitemid 24184465)
75. Gong BT, Norwood TH, Hoehn H, McPherson E, Hall JG, Hickman R: Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum Genet 1976;35:117-123. (Pubitemid 8002820)
76. Fryns JP, Haspeslagh M, Agneessens A, Van Den Berghe H: De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. Ann Genet 1985;28:45-48. (Pubitemid 15144928)
77. Schömig-Spingler M, Schmid M, Brosi W, Grimm T: Chromosome 7 short arm deletion, 7p21.pter. Hum Genet 1986;74:323-325. (Pubitemid 17056560)
78. Touliatou V, Mavrou A, Kolialexi A, Kanavakis E, Kitsiou-Tzeli S: Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15.pter. Genet Couns 2007;18:295-301. (Pubitemid 350033530)
79. Hinkel GK, Tolkendorf E, Bergan J: [7p-deletion syndrome]. Monatsschr Kinderheilkd 1988;136:824-827.
80. Morimoto M, An B, Ogami A, Shin N, Sugino Y, et al: Infantile spasms in a patient with Williams syndrome and craniosynostosis. Epilepsia 2003;44:1459-1462. (Pubitemid 37385858)
81. Donahue ML, Ryan RM: Interstitial deletion of 8q21.22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. Am J Med Genet 1995;56:97-100.
82. Fryburg JS, Golden WL: Interstitial deletion of 8q13.3.22.1 associated with craniosynostosis. Am J Med Genet 1993;45:638-641. (Pubitemid 23066432)
83. Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, et al: Monosomy 9p24.pter and trisomy 5q31.qter: case report and review of two cases. Am J Med Genet 1995;57:52-56.
84. Wagstaff J, Hemann M: A familial 'balanced' 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 1995;56:302-309.
85. Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A: The 9p-syndrome. Ann Genet 1976;19:11-16.
86. Eshel G, Lahat E, Reish O, Barr J: Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p. J Child Neurol 2002;17:50-51. (Pubitemid 34406889)
87. Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M: Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006;14:759-767. (Pubitemid 43797274)
88. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, et al: Deletion 9q34.3 syndrome: genotypephenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet 2005;42:328-335. (Pubitemid 40523956)
89. Francke U, Mahan GM, Dixson BK, Jones OW: 10p-: a new autosomal deletion syndrome? Birth Defects Orig Artic Ser 1975;11:207-212.
90. Lukusa T, Smeets E, Vermeesch JR, Fryns JP: Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis. Genet Couns 2002;13:417-425. (Pubitemid 36069506)
91. Bresson JL, Noir A: [Partial monosomy 11q. A new case]. Ann Genet 1977;20:63-66. (Pubitemid 8085550)
92. Orye E, Craen M: Short arm deletion of chromosome 12: report of two new cases. Humangenetik 1975;28:335-342.
93. Masuno M, Asano J, Yasuda K, Kondo T, Orii T: Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies. Am J Med Genet 1993;45:65-67. (Pubitemid 23017988)
94. Orbeli DJ, Lurie IW, Goroshenko JL: The syndrome associated with the partial D-monosomy: case report and review. Humangenetik 1971;13:296-308.
95. Lemyre E, Lemieux N, Décarie JC, Lambert M: Del (14) (q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 1998;77:162-165. (Pubitemid 28211169)
96. Shur N, Cowan J, Wheeler PG: Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1. Am J Med Genet A 2003;120 A: 542-546. (Pubitemid 37063752)
97. Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, et al: Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t (Y;1). Am J Med Genet A 2006;140:1773-1777. (Pubitemid 44148239)
98. Stratton RF, Dobyns WB, Greenberg F, De Sana JB, Moore C, et al: Interstitial deletion of (17) (p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet 1986;24:421-432. (Pubitemid 16017636)
99. Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen MM Jr: Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q. Am J Med Genet 1996;62:372-375.
100. Cantu ES, Khan TA, Pai GS: Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break? Am J Med Genet 1992;44:340-344.
101. McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, et al: Craniosynostosis: another feature of the 22q11.2 deletion syndrome. Am J Med Genet A 2005;136 A: 358-362. (Pubitemid 41076588)
102. Heinrichs C, Elmer C, Derasse M, Perlmutter N, Vamos E: Craniosynostosis in the Ullrich-Turner syndrome. Am J Med Genet 1991;40:252.
103. Lucas J, Faivre J, Le Mee F, Hubert S, Pluquailec K, Picard F: [De novo interstitial deletion of the long arm of chromosome 2:46, XXX, del (2) (q14q21), associated with premature craniosynostosis]. Ann Genet 1987;30:33-38. (Pubitemid 17095176)
104. Carvalho DR, Trad CS, Pina-Neto JM: Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karyotype) and craniosynostosis. Arq Neuropsiquiatr 2006;64:303-305. (Pubitemid 43979079)
105. Fryns JP: Structural abnormalities of the Y-chromosome and craniosynostosis. Clin Genet 1992;42:100-101.
106. Gagnon JA, Richer CL, Lemieux N, Gauthier-Chouinard M: [De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation]. Ann Genet 1984;27:33-37. (Pubitemid 14147248)
107. McGaughran J, Aftimos S, Oei P: Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet 2000;94:311-315.
108. Buchinger G, Wettstein A, Metze H: Familial chromosome translocation t (3;18) (p21;p11). J Med Genet 1981;18:119-123. (Pubitemid 11112228)
109. Wilson GN, Dasouki M, Barr M Jr: Further delineation of the dup (3q) syndrome. Am J Med Genet 1985;22:117-123.
110. Preus M, Vekemans M, Kaplan P: Diagnosis of chromosome 3 duplication q23.qter, deletion p25.pter in a patient with the C (trigonocephaly) syndrome. Am J Med Genet 1986;23:935-943. (Pubitemid 16063406)
111. De Brasi D, Perone L, Di Micco P, Andria G, Sebastio G, et al: Cloverleaf skull anomaly and de novo trisomy 4p. J Med Genet 1999;36:422-424. (Pubitemid 29221883)
112. Opitz JM, Patau K: A partial trisomy 5p syndrome. Birth Defects Orig Artic Ser 1975;11:191-200.
113. Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, et al: Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A 2007;143 A: 2931-2936. (Pubitemid 350274807)
114. Bernheim A, Berger R, Vaugier G, Thieffry JC, Matet Y: Partial trisomy 6p. Hum Genet 1979;48:13-16. (Pubitemid 9240728)
115. Schmid W, D'Apuzzo V, Rossi E: Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bowshaped mouth, hypogenitalism and club feet. Hum Genet 1979;46:279-284. (Pubitemid 9249383)
116. Robertson KP, Thurmon TF, Tracy MC: Acrocephalosyndactyly and partial trisomy 6. Birth Defects Orig Artic Ser 1975;11:267-271.
117. Odell JM, Siebert JR, Bradley C, Salk D: Duplication 7p in a family with t (7;11): association with anomalies of the anterior cranial base. Am J Med Genet 1987;27:687-692. (Pubitemid 17103707)
118. Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, et al: Ring chromosome 9 with a 9p22.3-p24.3 duplication. Eur J Pediatr 1999;158:791-793. (Pubitemid 29448467)
119. Sujansky E, Smith AC, Peakman DC, McConnell TS, Baca P, Robinson A: Familial pericentric inversion of chromosome 8. Am J Med Genet 1981;10:229-235. (Pubitemid 12249728)
120. Phadke SR, Patil SJ: Partial trisomy 13 with features similar to C syndrome. Indian Pediatr 2004;41:614-617. (Pubitemid 38843584)
121. Yelavarthi KK, Zunich J: Familial interstitial duplication of 11q; partial trisomy (11) (q13.5q21). Am J Med Genet A 2004;126 A: 423-426. (Pubitemid 38541812)
122. Hornstein L, Soukup S: A recognizable phenotype in a child with partial duplication 13q in a family with t (10q;13q). Clin Genet 1981;19:81-86. (Pubitemid 11136950)
123. Genest P, Genest FB, Gagnon-Blais D: [Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome]. Ann Genet 1983;26:86-90. (Pubitemid 13068217)
124. Van Allen MI, Siegel-Bartelt J, Feigenbaum A, Teshima IE: Craniosynostosis associated with partial duplication of 15q and deletion of 2q. Am J Med Genet 1992;43:688-692.
125. Zollino M, Tiziano F, Di Stefano C, Neri G: Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet 1999;87:391-394. (Pubitemid 30007721)
126. Babovic-Vuksanovic D, Westman JA, Jalal SM, Lindor NM: Clinical characteristics associated with dup17 (q24q25.1) in a mosaic mother and two non-mosaic daughters. Clin Dysmorphol 1998;7:171-176. (Pubitemid 28317443)
127. Czako M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G: Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet A 2004;131:310-312.
128. Gustashaw KM, Zurcher V, Dickerman LH, Stallard R, Willard HF: Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. Am J Med Genet 1994;53:39-45. (Pubitemid 24313116)
129. Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM: Tetrasomy 15q25.3.qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors. Am J Med Genet 2002;113:82-88. (Pubitemid 35192591)
130. Demyer W, Palmer C: Closed metopic suture with trigonocephaly in Down's syndrome. Neurology 1965;15:756-760.
131. Saadi AA, Juliar JF, Harm J, Brough AJ, Perrin EV, Chen H: Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants. Clin Genet 1976;9:43-50.
132. Ward J, Vieto E, Lee D, Arosemena G: Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18:46, XX, t (1;18) (p31;q11). J Med Genet 1993;30:438-439. (Pubitemid 23169288)
133. Vazquez-Cardenas A, Vasquez-Velasquez AI, Barros-Núñez P, Mantilla-Capacho J, Rocchi M, Rivera H: Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges. J Appl Genet 2007;48:261-268. (Pubitemid 47330967)
134. Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, et al: TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. Eur J Med Genet 2008;51:156-164.
135. Hordnes K, Engebretsen LF, Knudtzon J: De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation. Clin Genet 1995;48:321-323. (Pubitemid 26039104)
136. Fryns JP, Hendrickx G: Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t (9;13) (q32;q22) in a male patient. Ann Genet 1996;39:51-53. (Pubitemid 26143485)