Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 328-338

  Matthaei, Anja ^a   Werner, Walter ^a   Gerlach, Eva Maria ^a   Koerner, Ulrike ^b   Tinschert, Sigrid ^a   Nitz, Inna ^c   Herr, Alexander ^a   Rump, Andreas ^a   Bartsch, Oliver ^a   Hinkel, Klaus G ^a   Schrock, Evelin ^a   Oexle, Konrad ^a,d  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Array CGH; Chromosomal aberration; Chromosome 16q; Digital phenotype; FTO; Reciprocal insertion

Indexed keywords

ARTICLE; BONE GROWTH; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME DELETION; CHROMOSOME INSERTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CRYPTORCHISM; FINGER MALFORMATION; GENE LOCATION; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; KARYOTYPE; KARYOTYPING; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEURAL TUBE DEFECT; PHENOTYPE; PRESCHOOL CHILD; RECIPROCAL CHROMOSOME TRANSLOCATION; TELECANTHUS;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIMB DEFORMITIES, CONGENITAL; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SPECTRAL KARYOTYPING; TRANSLOCATION, GENETIC;

EID: 25144516526     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.024     Document Type: Article

References (27)

1. B. Burwinkel, and M.W. Kilimann Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease J. Mol. Biol. 277 1998 513 517
2. D.F. Callen, H. Eyre, S. Lane, Y. Shen, I. Hansmann, N. Spinner, E. Zackai, D. McDonald-McGinn, S. Schuffenhauer, J. Wauters, M.-N. Van Thienen, B. Van Roy, G.R. Sutherland, and E.A. Haan High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype J. Med. Genet. 30 1993 828 832
3. F.E.B. Elder, J.W. Ferguson, and L.H. Lockhart Identical twins with deletion 16q syndrome: evidence that 16q12.2 → q13 is the critical region Hum. Genet. 67 1984 233 236
4. Y.S. Fan, V.M. Siu, J.H. Jung, and J. Xu Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements Genet. Test. 4 2000 9 14
5. B. Flügel, H. Greil, and K. Sommer Anthropologischer. Atlas 1981 Tribüne Berlin
6. J.G. Hall, U.G. Froster-Iskenius, and J.E. Allanson Handbook of normal physical measurements 1989 Oxford University Press Oxford
7. A.J. Iafrate, L. Feuk, M.N. Rivera, M.L. Listewnik, P.K. Donahoe, Y. Qi, S.W. Scherer, and C. Lee Detection of large-scale variation in the human genome Nat. Genet. 36 2004 949 951
8. J. Kohlhase, A. Wischermann, H. Reichenbach, U. Froster, and W. Engel Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome Nat. Genet. 18 1998 81 83
9. A. Kuwano, S.A. Ledbetter, W.B. Dobyns, B.S. Emanuel, and D.H. Ledbetter Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization Am. J. Hum. Genet. 49 1991 707 714
10. K. Madan, A.W.M. Nieuwint, and Y. Van Bever Recombination in a balanced complex translocation of a mother leading to balanced reciprocal translocation in the child, Review of 60 cases of balanced complex translocations Hum. Genet. 99 1997 806 815
11. S. Marlin, S. Blanchard, R. Slim, D. Lacombe, F. Denoyelle, J.L. Alessandri, E. Calzolari, V. Drouin-Garraud, F.G. Ferraz, A. Fourmaintraux, N. Philip, J.E. Toublanc, and C. Petit Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient Hum. Mutat. 14 1999 377 386
12. T. Peters, K. Ausmeier, R. Dildrop, and U. Rüther The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster Mamm. Genome 13 2002 186 188
13. D. Pinkel, R. Segraves, D. Sudar, S. Clark, I. Poole, D. Kowbel, C. Collins, W.L. Kuo, C. Chen, Y. Zhai, S.H. Dairkee, B.M. Ljung, J.W. Gray, and D.G. Albertson High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays Nat. Genet. 20 1998 207 211
14. A. Schinzel Catalogue of unbalanced chromosome aberrations in man, 2nd ed 2001 Walter de Gruyter Berlin
15. E. Schrock, S. du Manoir, T. Veldman, B. Schoell, J. Wienberg, M.A. Ferguson-Smith, Y. Ning, D.H. Ledbetter, I. Bar-Am, D. Soenksen, Y. Garini, and T. Ried Multicolor spectral karyotyping of human chromosomes Science 273 1996 494 497
16. E. Schrock, T. Veldman, H. Padilla-Nash, Y. Ning, J. Spurbeck, S. Jalal, L.G. Shaffer, P. Papenhausen, C. Kozma, M.C. Phelan, E. Kjeldsen, S.A. Schonberg, P. O'Brien, L. Biesecker, S. du Manoir, and T. Ried Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities Hum. Genet. 101 1997 255 262
17. E. Schrock, and H. Padilla-Nash Spectral karyotyping and multicolour fluorescence in situ hybridization reveal new tumor-specific chromosomal aberrations Sem. Hematol. 37 2000 334 347
18. S. Schuffenhauer, D.F. Callen, H. Seidel, Y. Shen, G. Lederer, and J. Murken De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy Clin. Genet. 42 1992 246 250
19. J. Sebat, B. Lakshmi, J. Troge, J. Alexander, J. Young, P. Lundin, S. Maner, H. Massa, M. Walker, M. Chi, N. Navin, R. Lucito, J. Healy, J. Hicks, K. Ye, A. Reiner, T.C. Gilliam, B. Trask, N. Patterson, A. Zetterberg, and M. Wigler Large-scale copy number polymorphism in the human genome Science 305 2004 525 528
20. S. Solinas-Toldo, S. Lampel, S. Stilgenbauer, J. Nickolenko, A. Benner, H. Dohner, T. Cremer, and P. Lichter Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances Genes Chromosomes Cancer 20 1997 399 407
21. M.R. Speicher, S. Gwyn Ballard, and D.C. Ward Karyotyping human chromosomes by combinatorial multi-fluor FISH Nat. Genet. 12 1996 368 375
22. H. Telenius, N.P. Carter, C.E. Bebb, M. Nordenskjold, B.A. Ponder, and A. Tunnacliffe Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer Genomics 13 1992 718 725
23. H.H. Thiemann, and I. Nitz Röntgenatlas der normalen Hand im Kindesalter, 2nd ed 1991 Thieme Leipzig
24. S. Uhrig, S. Schuffenhauer, C. Fauth, A. Wirtz, C. Daumer-Haas, C. Apacik, M. Cohen, J. Muller-Navia, T. Cremer, J. Murken, and M.R. Speicher Multiplex-FISH for pre- and postnatal diagnostic applications Am. J. Hum. Genet. 65 1999 448 462
25. H. van Esch, P. Groenen, S. Daw, A. Poffyn, M. Holvoet, P. Scambler, J.P. Fryns, W. Van de Ven, and K. Devriendt Partial DiGeorge syndrome in two patients with a 10p rearrangement Clin. Genet. 55 1999 269 276
26. J.O. van Hemel, and H.J. Eussen Interchromosomal insertions. Identification of five cases and a review Hum. Genet. 107 2000 415 432
27. Y.T. Wang, S. Bajalica, F.Y. Han, Z.C. Wang, T.H. Bui, and Y.G. Xie Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages Am. J. Med. Genet. 52 1994 349 351