Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 894-900

  Haddad, Véronique ^a   Aboura, Azzedine ^b   Tosca, Lucie ^a,c   Guediche, Narjes ^a,c   Mas, Anne Elisabeth ^d   L'Herminé, Aurore Coulomb ^e   Druart, Luc ^f   Picone, Olivier ^d   Brisset, Sophie ^a   Tachdjian, Gérard ^a,c  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Centre National de la Recherche Scientifique   (France)

^d HÔPITAL ANTOINE BÉCLÈRE   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f Laboratoire Biomnis   (France)

Author keywords

Array CGH; Genotype phenotype correlation; Neocentromere; Supernumerary marker chromosome; Tetrasomy 13q

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CEREBELLUM HYPOPLASIA; CHROMOSOME 13Q; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; CYSTIC LYMPHANGIOMA; CYTOGENETICS; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; HAND MALFORMATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOSPADIAS; INTESTINE MALFORMATION; INTRAUTERINE GROWTH RETARDATION; KIDNEY DYSPLASIA; LEG MALFORMATION; MALE; MARKER CHROMOSOME; MICROPENIS; MULTIPLE MALFORMATION SYNDROME; NEOCENTROMERE; PREGNANCY TERMINATION; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TETRASOMY; THYMUS APLASIA;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHROMOSOME BANDING; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPE; LYMPHANGIOMA, CYSTIC; MALE; PREGNANCY; PREGNANCY COMPLICATIONS; TETRASOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 84859004092     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35258     Document Type: Article

References (38)

1. Amor DJ, Choo KH. 2002. Neocentromeres: Role in human disease, evolution, and centromere study. Am J Hum Genet 71: 695- 714.
2. Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH. 2005. Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3. Am J Med Genet Part A 133A: 151- 157.
3. Barwell J, Mazzaschi R, Bint S, Ogilvie CM, Elmslie F. 2004. A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype. Am J Med Genet Part A 130A: 295- 298.
4. Boros J, Newitt P, Wang Q, McAvoy JW, Lovicu FJ. 2006. Sef and Sprouty expression in the developing ocular lens: Implications for regulating lens cell proliferation and differentiation. Semin Cell Dev Biol 17: 741- 752.
5. Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L. 2009. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet 84: 760- 770.
6. Choo KH. 2001. Domain organization at the centromere and neocentromere. Dev Cell 1: 165- 177.
7. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S. 1997. Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. Hum Mol Genet 6: 1195- 1204.
8. Dhar SU, Robbins-Furman P, Levy ML, Patel A, Scaglia, F. 2009. Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A 149A: 993- 996.
9. Goodnough LH, Brugmann SA, Hu D, Helms JA. 2007. Stage-dependent craniofacial defects resulting from Sprouty2 overexpression. Dev Dyn 236: 1918- 1928.
10. Govaerts LP, de Coo IFM, van der Blij-Philipsen M, Wouters CH, Eussen H, Yu CY, Warburton D, Van Hemel JO. 1999. Tetrasomy (13)(q32-qter) due to a neocentromere at 13q32 in a mentally retarded boy with progressive loss of function. Am J Hum Gen Suppl 65: A893.
11. Graf MD, Christ L, Mascarello JT, Mowrey P, Pettenati M, Stetten G, Storto P, Surti U, Van Dyke DL, Vance GH, Wolff D, Schwartz S. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: A collaborative study. J Med Genet 2006. 43: 660- 664.
12. Haraguchi R, Mo R, Hui C, Motoyama J, Makino S, Shiroishi T, Gaffield W, Yamada G. 2001. Unique functions of Sonic hedgehog signaling during external genitalia development. Development 128: 4241- 4250.
13. Knegt AC, Li S, Engelen JJ, Bijlsma EK, Warburton PE. 2003. Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21→13q22 chromosome and balancing reciprocal deletion. Prenat Diagn 23: 215- 220.
14. Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P. 2000. Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet 91: 165- 170.
15. Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Warburton PE. 2002. Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet 110: 258- 267.
16. Liehr T. Small supernumerary marker chromosomes (sSMC). (accessed on January 1, 2010).
17. Liehr T, Weise A. 2007. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19: 719- 731.
18. Liehr T, Kosyakova N, Weise A, Ziegler M, Raabe-Meyer G. 2010. First case of a neocentromere formation in an otherwise normal chromosome 7. Cytogenet Genome Res 128: 189- 191.
19. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D. 2007. Neocentric small supernumerary marker chromosomes (sSMC)-Three more cases and review of the literature. Cytogenet Genome Res 118: 31- 37.
20. Lozzio C, Lyall L, Bamberger E, Ralston E. 1997. Mosaic for small metacentric chromosome with tetrasomy 13q32-qter and non-alpha satellite centromere. Am J Hum Genet Suppl 61: A751.
21. Marshall OJ, Chueh AC, Wong LH, Choo KH. 2008. Neocentromeres: New insights into centromere structure, disease development, and karyotype evolution. Am J Hum Genet 82: 261- 282.
22. Mascarenhas A, Matoso E, Saraiva J, Tonnies H, Gerlach A, Juliao MJ, Melo JB, Carreira IM. 2008. First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q. Cytogenet Genome Res 121: 293- 297.
23. Moore FL, Jaruzelska J, Dorfman DM, Reijo-Pera RA. 2004. Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells. Genomics 83: 834- 843.
24. Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB. 2001. Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. Am J Med Genet 99: 21- 28.
25. Nishiguchi S, Wood H, Kondoh H, Lovell-Badge R, Episkopou V. 1998. Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice. Genes Dev 12: 776- 781.
26. Rivera H, Vasquez AI, Garcia-Cruz D, Crolla JA. 1999. Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet 85: 385- 388.
27. Saunders S, Paine-Saunders S, Lander AD. 1997. Expression of the cell surface proteoglycan glypican-5 is developmentally regulated in kidney, limb, and brain. Dev Biol 190: 78- 93.
28. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations. In: Man, 2nd edition. Berlin: Walter de Gruyter.
29. Tay SY, Yu X, Wong KN, Panse P, Ng CP, Roy S. 2010. The iguana/DZIP1 protein is a novel component of the ciliogenic pathway essential for axonemal biogenesis. Dev Dyn 239: 527- 534.
30. Tohma T, Ohashi H, Hasegawa T, Nagai T, Fukushima Y, Naritomi K. 1998. Two cases of mosaic partial tetrasomy 13q associated with an acentric marker chromosome. Am J Hum Genet Suppl 63: A862.
31. Tonnies H, Gerlach A, Heineking B, Starke H, Neitzel H, Neumann LM. 2006. Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13. Cytogenet Genome Res 114: 325- 329.
32. Veugelers M, Vermeesch J, Reekmans G, Steinfeld R, Marynen P, David G. 1997. Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family. Genomics 40: 24- 30.
33. Veugelers M, De Cat B, Ceulemans H, Bruystens AM, Coomans C, Durr J, Vermeesch J, Marynen P, David G. 1999. Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans. J Biol Chem 274: 26968- 26977.
34. Voullaire LE, Slater HR, Petrovic V, Choo KH. 1993. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: Activation of a latent centromere? Am J Hum Genet 52: 1153- 1163.
35. Warburton D, Pericone L, Say B, Carpenter N, Yu CY, Warburton PE. 1997. Inv dup(13) (qterq21.1) with neocentromere in 13q32: Precise definition of duplication and centromere location using CENP antibodies and FISH. Am J Hum Genet Suppl 61: A812.
36. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. 2000. Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66: 1794- 1806.
37. Welsh IC, Hagge-Greenberg A, O'Brien TP. 2007. A dosage-dependent role for Spry2 in growth and patterning during palate development. Mech Dev 124: 746- 761.
38. Williams SE, Mann F, Erskine L, Sakurai T, Wei S, Rossi DJ, Gale NW, Holt CE, Mason CA, Henkemeyer M. 2003. Ephrin-B2 and EphB1 mediate retinal axon divergence at the optic chiasm. Neuron 39: 919- 935.