Pure de novo partial trisomy 6p in a girl with craniosynostosis

American Journal of Medical Genetics, Part A

Volumn 161, Issue 2, 2013, Pages 343-351

  Varvagiannis, Konstantinos ^a   Stefanidou, Amalia ^a   Gyftodimou, Yolanda ^a   Lord, Helen ^b   Williams, Louise ^b   Sarri, Catherine ^a   Pandelia, Efi ^a   Bazopoulou Kyrkanidou, Euterpe ^c   Noakes, Charlotte ^b   Lester, Tracy ^b   Wilkie, Andrew O M ^d   Petersen, Michael B ^a  

^a Institute of Child Health   (Greece)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ATHENS   (Greece)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Craniosynostosis; Duplication 6p; RUNX2; Trisomy (6)(p12.3 p21.1)

Indexed keywords

DNA; TRANSCRIPTION FACTOR RUNX2;

ARTICLE; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 6P; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINODACTYLY; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER PROGRAM; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; CRANIOPLASTY; DNA EXTRACTION; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FONTANEL; GENE; GENETIC ANALYSIS; HIDDEN MARKOV MODEL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; KARYOTYPING; LANGUAGE DISABILITY; MAXILLA HYPOPLASIA; MICROGNATHIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPERTONIA; OCCUPATIONAL THERAPY; PARTIAL TRISOMY; PARTIAL TRISOMY 6P; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; PSYCHOMOTOR RETARDATION; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; RUNX2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKULL RADIOGRAPHY; SPEECH THERAPY; STRABISMUS; STRABISMUS SURGERY; TOOTH MALFORMATION; VALGUS DEFORMITY;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 6; CORE BINDING FACTOR ALPHA 1 SUBUNIT; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; SYNDROME; TRISOMY;

EID: 84872946433     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35727     Document Type: Article

References (36)

1. Bart IY, Weemaes CM, Schuitema-Dijkstra AR, Smeets D, de Vries E. 2011. Immunodeficiency in a child with partial trisomy 6p. Acta Paediatr 100:e92-e94.
2. Bernheim A, Berger R, Vaugier G, Thieffry JC, Matet Y. 1979. Partial trisomy 6p. Hum Genet 48:13-16.
3. Bialek P, Kern B, Yang X, Schrock M, Sosic D, Hong N, Wu H, Yu K, Ornitz DM, Olson EN, Justice MJ, Karsenty G. 2004. A twist code determines the onset of osteoblast differentiation. Dev Cell 6:423-435.
4. Breuning MH, Bijlsma JB, de France HF. 1977. Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? Hum Genet 38:7-13.
5. Chiyo H, Kuroki Y, Matsui I, Yanagida K, Nakagome Y. 1975. A 6p trisomy detected in a family with a "giant satellite". Humangenetik 30:63-67.
6. Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J. 2007. QuantiSNP: An objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 35:2013-2025.
7. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. 2001. A natural history of cleidocranial dysplasia. Am J Med Genet 104:1-6.
8. Côté GB, Papadakou-Lagoyanni S, Sbyrakis S. 1978. Partial trisomy 6p with karyotype 46, XY, der(22), t(6;22)(p22;q13)mat. J Med Genet 15:479-481.
9. Dominguez MG, Wong-Ley LE, Rivera H, Vasquez AI, Ramos AL, Sanchez-Urbina R, Morales JA, Figuera LE. 2003. Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23). Ann Genet 46:45-48.
10. el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. 1997. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15:42-46.
11. Engelen JJ, Marcelis CL, Alofs MG, Loneus WH, Pulles-Heintzberger CF, Hamers AJ. 2001. De novo "pure" partial trisomy (6)(p22.1→pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am J Med Genet 99:48-53.
12. Eswarakumar VP, Ozcan F, Lew ED, Bae JH, Tome F, Booth CJ, Adams DJ, Lax I, Schlessinger J. 2006. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proc Natl Acad Sci U S A 103:18603-18608.
13. Fogu G, Bandiera P, Cambosu F, Carta AR, Pilo L, Serra G, Soro G, Tondi M, Tusacciu G, Montella A. 2007. Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies. Eur J Med Genet 50:103-111.
14. Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L. 2002. Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation. Am J Med Genet 108:36-40.
15. Golan I, Baumert U, Hrala BP, Mussig D. 2003. Dentomaxillofacial variability of cleidocranial dysplasia: Clinicoradiological presentation and systematic review. Dentomaxillofac Radiol 32:347-354.
16. Golan I, Baumert U, Hrala BP, Mussig D. 2004. Early craniofacial signs of cleidocranial dysplasia. Int J Paediatr Dent 14:49-53.
17. Gunderson KL, Steemers FJ, Lee G, Mendoza LG, Chee MS. 2005. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 37:549-554.
18. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz deLuna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41.
19. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. 2002. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472-486.
20. Karamanov S, Homola J, Satrapa V, Kofer J, Lastuvkova J. 2001. Interstitial tandem duplication of 6p: A case with de novo partial trisomy (6)(p21.JT1p21.3). Ann Genet 44:s78.
21. McNamara CM, O'Riordan BC, Blake M, Sandy JR. 1999. Cleidocranial dysplasia: Radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 28:89-97.
22. Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML. 2010. Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet Part A 152A:2203-2210.
23. Morton CC, Bieber FR, Mohanakumar T, Nance WE, Redwine FO, Brown JA. 1980. Codominant expression of major histocompatibility complex (MCH) in a case of partial trisomy 6p resulting from an insertion and inversion involving heterologous chromosomes. Am J Med Genet 32:81A.
24. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel Bu, Olsen BR. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
25. Ng D, Mowrey P, Ragoussis J, Mirza G, Coll E, Di Fazio MP, Turner C, Levin SW. 2001. Molecularly defined interstitial tandem duplication 6p case with mild manifestations. Am J Med Genet 103:320-325.
26. Pearson G, Mann JD, Bensen J, Bull RW. 1979. Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens. Am J Hum Genet 31:29-34.
27. Phelan MC, Albiez K, Stevenson RE. 1986. Trisomy 6p due to a tandem duplication. Proc Greenwood Genet Center 5:39-43.
28. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
29. Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL. 2006. Whole-genome genotyping with the single-base extension assay. Nat Methods 3:31-33.
30. Therkelsen AJ, Klinge T, Henningsen K, Mikkelsen M, Schmidt G. 1971. A family with a presumptive C-F translocation in five generations. Ann Genet 14:13-21.
31. Truong T, Zhang X, Pathmanathan D, Soo C, Ting K. 2007. Craniosynostosis-associated gene nell-1 is regulated by runx2. J Bone Miner Res 22:7-18.
32. Villa A, Gomez EG, Rodriguez L, Rastrollo RH, Martinez Tallo ME, Martinez-Frias ML. 2000. Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.JT3). Am J Med Genet 90:369-375.
33. Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Perez-Jurado LA, Sole F. 2007. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. Am J Med Genet Part A 143A:1108-1113.
34. Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J. 1993. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 44:262-269.
35. Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. 2007. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet Part A 143A:1941-1949.
36. Zhou YX, Xu X, Chen L, Li C, Brodie SG, Deng CX. 2000. A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet 9:2001-2008.